Canonical Allele Identifier: CA388675010

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527961A>G (hg19) ; chr13:g.102875611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875611A>G , CM000675.2:g.102875611A>G	GRCh38
NC_000013.10:g.103527961A>G , CM000675.1:g.103527961A>G	GRCh37
NC_000013.9:g.102325962A>G	NCBI36
NG_007146.1:g.34788A>G , LRG_464:g.34788A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4370A>G (ERCC5)
ENST00000682869.1:n.3918A>G (ERCC5)
ENST00000683246.1:n.4906A>G (ERCC5)
ENST00000683642.1:n.3499A>G (ERCC5)
ENST00000639132.1:c.3944A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1315Gly
ENST00000639435.1:c.4631A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1544Gly
ENST00000651002.1:c.*3030A>G (ERCC5)	ENSP00000498809.1:n.*3030A>G
ENST00000651055.1:n.3396A>G (ERCC5)
ENST00000651281.1:n.3637A>G (ERCC5)
ENST00000651387.1:n.2753A>G (ERCC5)
ENST00000651470.1:c.*441A>G (ERCC5)	ENSP00000498701.1:n.*441A>G
ENST00000652225.2:c.3269A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1090Gly
ENST00000652613.1:c.2765A>G (ERCC5)	ENSP00000498357.1:p.Glu922Gly
ENST00000355739.8:c.3269A>G (ERCC5)	ENSP00000347978.4:p.Glu1090Gly
ENST00000375954.1:c.968A>G (ERCC5)	ENSP00000365121.1:p.Glu323Gly
ENST00000472247.1:n.429A>G (ERCC5)
ENST00000610537.4:c.3266A>G (ERCC5)	ENSP00000478667.1:p.Glu1089Gly
NM_000123.3:c.3269A>G , LRG_464t1:c.3269A>G (ERCC5)	NP_000114.2:p.Glu1090Gly
NM_001204425.1:c.4631A>G (BIVM-ERCC5)	NP_001191354.1:p.Glu1544Gly
NM_000123.4:c.3269A>G (ERCC5) MANE Select	NP_000114.3:p.Glu1090Gly
NM_001204425.2:c.4631A>G (BIVM-ERCC5)	NP_001191354.2:p.Glu1544Gly