Canonical Allele Identifier: CA388576317

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103519041G>C (hg19) ; chr13:g.102866691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866691G>C , CM000675.2:g.102866691G>C	GRCh38
NC_000013.10:g.103519041G>C , CM000675.1:g.103519041G>C	GRCh37
NC_000013.9:g.102317042G>C	NCBI36
NG_007146.1:g.25868G>C , LRG_464:g.25868G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2620G>C (ERCC5)
ENST00000682869.1:n.3028G>C (ERCC5)
ENST00000683246.1:n.3156G>C (ERCC5)
ENST00000639132.1:c.3054G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Gln1018His
ENST00000639435.1:c.3741G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1247His
ENST00000651002.1:c.*2140G>C (ERCC5)	ENSP00000498809.1:n.*2140G>C
ENST00000651055.1:n.2508G>C (ERCC5)
ENST00000651281.1:n.2747G>C (ERCC5)
ENST00000651387.1:n.1863G>C (ERCC5)
ENST00000651470.1:c.2379G>C (ERCC5)	ENSP00000498701.1:p.Gln793His
ENST00000652225.2:c.2379G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Gln793His
ENST00000652613.1:c.1875G>C (ERCC5)	ENSP00000498357.1:p.Gln625His
ENST00000355739.8:c.2379G>C (ERCC5)	ENSP00000347978.4:p.Gln793His
ENST00000375954.1:c.78G>C (ERCC5)	ENSP00000365121.1:p.Gln26His
ENST00000481099.1:n.499G>C (ERCC5)
ENST00000602836.1:c.3655G>C (BIVM-ERCC5)
ENST00000610537.4:c.2379G>C (ERCC5)	ENSP00000478667.1:p.Gln793His
NM_000123.3:c.2379G>C , LRG_464t1:c.2379G>C (ERCC5)	NP_000114.2:p.Gln793His
NM_001204425.1:c.3741G>C (BIVM-ERCC5)	NP_001191354.1:p.Gln1247His
NM_000123.4:c.2379G>C (ERCC5) MANE Select	NP_000114.3:p.Gln793His
NM_001204425.2:c.3741G>C (BIVM-ERCC5)	NP_001191354.2:p.Gln1247His