Canonical Allele Identifier: CA388674772

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875499G>A , CM000675.2:g.102875499G>A	GRCh38
NC_000013.10:g.103527849G>A , CM000675.1:g.103527849G>A	GRCh37
NC_000013.9:g.102325850G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.3157G>A (ERCC5) MANE Select	NP_000114.3:p.Gly1053Arg
ENST00000652225.2:c.3157G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gly1053Arg
NM_001204425.2:c.4519G>A (BIVM-ERCC5)	NP_001191354.2:p.Gly1507Arg
ENST00000355739.8:c.3157G>A (ERCC5)	ENSP00000347978.4:p.Gly1053Arg
ENST00000375954.1:c.856G>A (ERCC5)	ENSP00000365121.1:p.Gly286Arg
ENST00000472247.1:n.317G>A (ERCC5)
ENST00000610537.4:c.3154G>A (ERCC5)	ENSP00000478667.1:p.Gly1052Arg
ENST00000639132.1:c.3832G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1278Arg
ENST00000639435.1:c.4519G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1507Arg
ENST00000651002.1:c.*2918G>A (ERCC5)	ENSP00000498809.1:n.*2918G>A
ENST00000651055.1:n.3284G>A (ERCC5)
ENST00000651281.1:n.3525G>A (ERCC5)
ENST00000651387.1:n.2641G>A (ERCC5)
ENST00000651470.1:c.*329G>A (ERCC5)	ENSP00000498701.1:n.*329G>A
ENST00000652613.1:c.2653G>A (ERCC5)	ENSP00000498357.1:p.Gly885Arg
ENST00000682632.1:n.4258G>A (ERCC5)
ENST00000682869.1:n.3806G>A (ERCC5)
ENST00000683246.1:n.4794G>A (ERCC5)
ENST00000683642.1:n.3387G>A (ERCC5)