Canonical Allele Identifier: CA255229275

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866725G>A , CM000675.2:g.102866725G>A	GRCh38
NC_000013.10:g.103519075G>A , CM000675.1:g.103519075G>A	GRCh37
NC_000013.9:g.102317076G>A	NCBI36
NG_007146.1:g.25902G>A , LRG_464:g.25902G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2413G>A (ERCC5) MANE Select	NP_000114.3:p.Gly805Arg
ENST00000652225.2:c.2413G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gly805Arg
NM_000123.3:c.2413G>A , LRG_464t1:c.2413G>A (ERCC5)	NP_000114.2:p.Gly805Arg
NM_001204425.1:c.3775G>A (BIVM-ERCC5)	NP_001191354.1:p.Gly1259Arg
NM_001204425.2:c.3775G>A (BIVM-ERCC5)	NP_001191354.2:p.Gly1259Arg
ENST00000355739.8:c.2413G>A (ERCC5)	ENSP00000347978.4:p.Gly805Arg
ENST00000375954.1:c.112G>A (ERCC5)	ENSP00000365121.1:p.Gly38Arg
ENST00000481099.1:n.533G>A (ERCC5)
ENST00000602836.1:c.3689G>A (BIVM-ERCC5)
ENST00000610537.4:c.2413G>A (ERCC5)	ENSP00000478667.1:p.Gly805Arg
ENST00000639132.1:c.3088G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1030Arg
ENST00000639435.1:c.3775G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1259Arg
ENST00000651002.1:c.*2174G>A (ERCC5)	ENSP00000498809.1:n.*2174G>A
ENST00000651055.1:n.2542G>A (ERCC5)
ENST00000651281.1:n.2781G>A (ERCC5)
ENST00000651387.1:n.1897G>A (ERCC5)
ENST00000651470.1:c.2413G>A (ERCC5)	ENSP00000498701.1:p.Gly805Arg
ENST00000652613.1:c.1909G>A (ERCC5)	ENSP00000498357.1:p.Gly637Arg
ENST00000682632.1:n.2654G>A (ERCC5)
ENST00000682869.1:n.3062G>A (ERCC5)
ENST00000683246.1:n.3190G>A (ERCC5)