Canonical Allele Identifier: CA7041924

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875875G>A , CM000675.2:g.102875875G>A	GRCh38
NC_000013.10:g.103528225G>A , CM000675.1:g.103528225G>A	GRCh37
NC_000013.9:g.102326226G>A	NCBI36
NG_007146.1:g.35052G>A , LRG_464:g.35052G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.3533G>A (ERCC5) MANE Select	NP_000114.3:p.Arg1178His
ENST00000652225.2:c.3533G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Arg1178His
NM_000123.3:c.3533G>A , LRG_464t1:c.3533G>A (ERCC5)	NP_000114.2:p.Arg1178His
NM_001204425.1:c.4895G>A (BIVM-ERCC5)	NP_001191354.1:p.Arg1632His
NM_001204425.2:c.4895G>A (BIVM-ERCC5)	NP_001191354.2:p.Arg1632His
ENST00000355739.8:c.3533G>A (ERCC5)	ENSP00000347978.4:p.Arg1178His
ENST00000375954.1:c.1232G>A (ERCC5)	ENSP00000365121.1:p.Arg411His
ENST00000472247.1:n.693G>A (ERCC5)
ENST00000610537.4:c.3530G>A (ERCC5)	ENSP00000478667.1:p.Arg1177His
ENST00000639132.1:c.4208G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1403His
ENST00000639435.1:c.4895G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1632His
ENST00000651002.1:c.*3294G>A (ERCC5)	ENSP00000498809.1:n.*3294G>A
ENST00000651055.1:n.3660G>A (ERCC5)
ENST00000651281.1:n.3901G>A (ERCC5)
ENST00000651387.1:n.3017G>A (ERCC5)
ENST00000651470.1:c.*705G>A (ERCC5)	ENSP00000498701.1:n.*705G>A
ENST00000652613.1:c.3029G>A (ERCC5)	ENSP00000498357.1:p.Arg1010His
ENST00000682632.1:n.4634G>A (ERCC5)
ENST00000682869.1:n.4182G>A (ERCC5)
ENST00000683246.1:n.5170G>A (ERCC5)
ENST00000683642.1:n.3763G>A (ERCC5)