Canonical Allele Identifier: CA388572881

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862488G>A , CM000675.2:g.102862488G>A	GRCh38
NC_000013.10:g.103514838G>A , CM000675.1:g.103514838G>A	GRCh37
NC_000013.9:g.102312839G>A	NCBI36
NG_007146.1:g.21665G>A , LRG_464:g.21665G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1339G>A (ERCC5) MANE Select	NP_000114.3:p.Ala447Thr
ENST00000652225.2:c.1339G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala447Thr
NM_000123.3:c.1339G>A , LRG_464t1:c.1339G>A (ERCC5)	NP_000114.2:p.Ala447Thr
NM_001204425.1:c.2701G>A (BIVM-ERCC5)	NP_001191354.1:p.Ala901Thr
NM_001204425.2:c.2701G>A (BIVM-ERCC5)	NP_001191354.2:p.Ala901Thr
ENST00000355739.8:c.1339G>A (ERCC5)	ENSP00000347978.4:p.Ala447Thr
ENST00000602836.1:c.2615G>A (BIVM-ERCC5)
ENST00000610537.4:c.1339G>A (ERCC5)	ENSP00000478667.1:p.Ala447Thr
ENST00000639132.1:c.2014G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala672Thr
ENST00000639435.1:c.2701G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala901Thr
ENST00000651002.1:c.*1100G>A (ERCC5)	ENSP00000498809.1:n.*1100G>A
ENST00000651055.1:n.1468G>A (ERCC5)
ENST00000651281.1:n.1707G>A (ERCC5)
ENST00000651387.1:n.823G>A (ERCC5)
ENST00000651470.1:c.1339G>A (ERCC5)	ENSP00000498701.1:p.Ala447Thr
ENST00000652613.1:c.835G>A (ERCC5)	ENSP00000498357.1:p.Ala279Thr
ENST00000682632.1:n.1580G>A (ERCC5)
ENST00000682869.1:n.1988G>A (ERCC5)
ENST00000683246.1:n.2116G>A (ERCC5)