Canonical Allele Identifier: CA484776571

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 2795275
• ClinVar RCV Id: RCV003675345
• gnomAD v4: 13-102856112-G-A
• MyVariant Identifiers: chr13:g.103508462G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856112G>A , CM000675.2:g.102856112G>A	GRCh38
NC_000013.10:g.103508462G>A , CM000675.1:g.103508462G>A	GRCh37
NC_000013.9:g.102306463G>A	NCBI36
NG_007146.1:g.15289G>A , LRG_464:g.15289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769G>A (ERCC5)
ENST00000682869.1:n.1177G>A (ERCC5)
ENST00000683246.1:n.1305G>A (ERCC5)
ENST00000684184.1:n.1174G>A (ERCC5)
ENST00000639132.1:c.1203G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gln401=
ENST00000639435.1:c.1890G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gln630=
ENST00000651002.1:c.*289G>A (ERCC5)	ENSP00000498809.1:n.*289G>A
ENST00000651055.1:n.657G>A (ERCC5)
ENST00000651281.1:n.896G>A (ERCC5)
ENST00000651470.1:c.528G>A (ERCC5)	ENSP00000498701.1:p.Gln176=
ENST00000652225.2:c.528G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gln176=
ENST00000652613.1:c.24G>A (ERCC5)	ENSP00000498357.1:p.Gln8=
ENST00000355739.8:c.528G>A (ERCC5)	ENSP00000347978.4:p.Gln176=
ENST00000535557.5:c.528G>A (ERCC5)	ENSP00000442117.1:p.Gln176=
ENST00000602836.1:c.1804G>A (BIVM-ERCC5)
ENST00000610537.4:c.528G>A (ERCC5)	ENSP00000478667.1:p.Gln176=
NM_000123.3:c.528G>A , LRG_464t1:c.528G>A (ERCC5)	NP_000114.2:p.Gln176=
NM_001204425.1:c.1890G>A (BIVM-ERCC5)	NP_001191354.1:p.Gln630=
NM_000123.4:c.528G>A (ERCC5) MANE Select	NP_000114.3:p.Gln176=
NM_001204425.2:c.1890G>A (BIVM-ERCC5)	NP_001191354.2:p.Gln630=