ClinVar

NM_018671.5(UNC45A):c.2328T>A (p.Ala776=)

Genes:

RCCD1-AS1:RCCD1 and UNC45A antisense RNA 1 [Gene - HGNC]
UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90952953 (on Assembly GRCh38)
• Chr15: 91496183 (on Assembly GRCh37)

Preferred name:

NM_018671.5(UNC45A):c.2328T>A (p.Ala776=)

HGVS:

• NC_000015.10:g.90952953T>A
• NG_061633.1:g.27774T>A
• NM_001039675.2:c.2283T>A
• NM_001323619.1:c.2328T>A
• NM_001323620.2:c.1893T>A
• NM_001323621.2:c.2283T>A
• NM_018671.5:c.2328T>AMANE SELECT
• NP_001034764.1:p.Ala761=
• NP_001310548.1:p.Ala776=
• NP_001310549.1:p.Ala631=
• NP_001310550.1:p.Ala761=
• NP_061141.2:p.Ala776=
• NC_000015.9:g.91496183T>A
• NR_170325.1:n.412A>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_170325.1:n.412A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001039675.2:c.2283T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323619.1:c.2328T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323620.2:c.1893T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323621.2:c.2283T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018671.5:c.2328T>A - synonymous variant - [Sequence Ontology: SO:0001819]