ClinVar

NM_053017.5(ART5):c.40G>A (p.Gly14Ser)

Gene:

ART5:ADP-ribosyltransferase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 3641823 (on Assembly GRCh38)
• Chr11: 3663053 (on Assembly GRCh37)

Preferred name:

NM_053017.5(ART5):c.40G>A (p.Gly14Ser)

HGVS:

• NC_000011.10:g.3641823C>T
• NG_121728.1:g.225C>T
• NM_001079536.2:c.40G>A
• NM_001297668.2:c.40G>A
• NM_053017.5:c.40G>AMANE SELECT
• NP_001073004.1:p.Gly14Ser
• NP_001284597.1:p.Gly14Ser
• NP_443750.2:p.Gly14Ser
• NC_000011.9:g.3663053C>T
• NM_053017.3:c.40G>A

This HGVS expression did not pass validation

Protein change:

G14S

Molecular consequence:

• NM_001079536.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297668.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_053017.5:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]