Canonical Allele Identifier: CA388572010

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862245C>T , CM000675.2:g.102862245C>T	GRCh38
NC_000013.10:g.103514595C>T , CM000675.1:g.103514595C>T	GRCh37
NC_000013.9:g.102312596C>T	NCBI36
NG_007146.1:g.21422C>T , LRG_464:g.21422C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1096C>T (ERCC5) MANE Select	NP_000114.3:p.Arg366Ter
ENST00000652225.2:c.1096C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Arg366Ter
NM_000123.3:c.1096C>T , LRG_464t1:c.1096C>T (ERCC5)	NP_000114.2:p.Arg366Ter
NM_001204425.1:c.2458C>T (BIVM-ERCC5)	NP_001191354.1:p.Arg820Ter
NM_001204425.2:c.2458C>T (BIVM-ERCC5)	NP_001191354.2:p.Arg820Ter
ENST00000355739.8:c.1096C>T (ERCC5)	ENSP00000347978.4:p.Arg366Ter
ENST00000602836.1:c.2372C>T (BIVM-ERCC5)
ENST00000610537.4:c.1096C>T (ERCC5)	ENSP00000478667.1:p.Arg366Ter
ENST00000639132.1:c.1771C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Arg591Ter
ENST00000639435.1:c.2458C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Arg820Ter
ENST00000651002.1:c.*857C>T (ERCC5)	ENSP00000498809.1:n.*857C>T
ENST00000651055.1:n.1225C>T (ERCC5)
ENST00000651281.1:n.1464C>T (ERCC5)
ENST00000651387.1:n.580C>T (ERCC5)
ENST00000651470.1:c.1096C>T (ERCC5)	ENSP00000498701.1:p.Arg366Ter
ENST00000652613.1:c.592C>T (ERCC5)	ENSP00000498357.1:p.Arg198Ter
ENST00000682632.1:n.1337C>T (ERCC5)
ENST00000682869.1:n.1745C>T (ERCC5)
ENST00000683246.1:n.1873C>T (ERCC5)