Canonical Allele Identifier: CA484983636

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543554
• MyVariant Identifiers: chr13:g.103527959G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875609G>A , CM000675.2:g.102875609G>A	GRCh38
NC_000013.10:g.103527959G>A , CM000675.1:g.103527959G>A	GRCh37
NC_000013.9:g.102325960G>A	NCBI36
NG_007146.1:g.34786G>A , LRG_464:g.34786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4368G>A (ERCC5)
ENST00000682869.1:n.3916G>A (ERCC5)
ENST00000683246.1:n.4904G>A (ERCC5)
ENST00000683642.1:n.3497G>A (ERCC5)
ENST00000639132.1:c.3942G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1314=
ENST00000639435.1:c.4629G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1543=
ENST00000651002.1:c.*3028G>A (ERCC5)	ENSP00000498809.1:n.*3028G>A
ENST00000651055.1:n.3394G>A (ERCC5)
ENST00000651281.1:n.3635G>A (ERCC5)
ENST00000651387.1:n.2751G>A (ERCC5)
ENST00000651470.1:c.*439G>A (ERCC5)	ENSP00000498701.1:n.*439G>A
ENST00000652225.2:c.3267G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gly1089=
ENST00000652613.1:c.2763G>A (ERCC5)	ENSP00000498357.1:p.Gly921=
ENST00000355739.8:c.3267G>A (ERCC5)	ENSP00000347978.4:p.Gly1089=
ENST00000375954.1:c.966G>A (ERCC5)	ENSP00000365121.1:p.Gly322=
ENST00000472247.1:n.427G>A (ERCC5)
ENST00000610537.4:c.3264G>A (ERCC5)	ENSP00000478667.1:p.Gly1088=
NM_000123.3:c.3267G>A , LRG_464t1:c.3267G>A (ERCC5)	NP_000114.2:p.Gly1089=
NM_001204425.1:c.4629G>A (BIVM-ERCC5)	NP_001191354.1:p.Gly1543=
NM_000123.4:c.3267G>A (ERCC5) MANE Select	NP_000114.3:p.Gly1089=
NM_001204425.2:c.4629G>A (BIVM-ERCC5)	NP_001191354.2:p.Gly1543=