Canonical Allele Identifier: CA257528

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866687C>T , CM000675.2:g.102866687C>T	GRCh38
NC_000013.10:g.103519037C>T , CM000675.1:g.103519037C>T	GRCh37
NC_000013.9:g.102317038C>T	NCBI36
NG_007146.1:g.25864C>T , LRG_464:g.25864C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2375C>T (ERCC5) MANE Select	NP_000114.3:p.Ala792Val
ENST00000652225.2:c.2375C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ala792Val
NM_000123.3:c.2375C>T , LRG_464t1:c.2375C>T (ERCC5)	NP_000114.2:p.Ala792Val
NM_001204425.1:c.3737C>T (BIVM-ERCC5)	NP_001191354.1:p.Ala1246Val
NM_001204425.2:c.3737C>T (BIVM-ERCC5)	NP_001191354.2:p.Ala1246Val
ENST00000355739.8:c.2375C>T (ERCC5)	ENSP00000347978.4:p.Ala792Val
ENST00000375954.1:c.74C>T (ERCC5)	ENSP00000365121.1:p.Ala25Val
ENST00000481099.1:n.495C>T (ERCC5)
ENST00000602836.1:c.3651C>T (BIVM-ERCC5)
ENST00000610537.4:c.2375C>T (ERCC5)	ENSP00000478667.1:p.Ala792Val
ENST00000639132.1:c.3050C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1017Val
ENST00000639435.1:c.3737C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1246Val
ENST00000651002.1:c.*2136C>T (ERCC5)	ENSP00000498809.1:n.*2136C>T
ENST00000651055.1:n.2504C>T (ERCC5)
ENST00000651281.1:n.2743C>T (ERCC5)
ENST00000651387.1:n.1859C>T (ERCC5)
ENST00000651470.1:c.2375C>T (ERCC5)	ENSP00000498701.1:p.Ala792Val
ENST00000652613.1:c.1871C>T (ERCC5)	ENSP00000498357.1:p.Ala624Val
ENST00000682632.1:n.2616C>T (ERCC5)
ENST00000682869.1:n.3024C>T (ERCC5)
ENST00000683246.1:n.3152C>T (ERCC5)