Canonical Allele Identifier: CA388673536

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 2698805
• ClinVar RCV Id: RCV003544320
• MyVariant Identifiers: chr13:g.103525653A>G (hg19) ; chr13:g.102873303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873303A>G , CM000675.2:g.102873303A>G	GRCh38
NC_000013.10:g.103525653A>G , CM000675.1:g.103525653A>G	GRCh37
NC_000013.9:g.102323654A>G	NCBI36
NG_007146.1:g.32480A>G , LRG_464:g.32480A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4025A>G (ERCC5)
ENST00000682869.1:n.3573A>G (ERCC5)
ENST00000683246.1:n.4561A>G (ERCC5)
ENST00000683642.1:n.3154A>G (ERCC5)
ENST00000639132.1:c.3599A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1200Gly
ENST00000639435.1:c.4286A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1429Gly
ENST00000651002.1:c.*2685A>G (ERCC5)	ENSP00000498809.1:n.*2685A>G
ENST00000651055.1:n.3051A>G (ERCC5)
ENST00000651281.1:n.3292A>G (ERCC5)
ENST00000651387.1:n.2408A>G (ERCC5)
ENST00000651470.1:c.*96A>G (ERCC5)	ENSP00000498701.1:n.*96A>G
ENST00000652225.2:c.2924A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Glu975Gly
ENST00000652613.1:c.2420A>G (ERCC5)	ENSP00000498357.1:p.Glu807Gly
ENST00000355739.8:c.2924A>G (ERCC5)	ENSP00000347978.4:p.Glu975Gly
ENST00000375954.1:c.623A>G (ERCC5)	ENSP00000365121.1:p.Glu208Gly
ENST00000610537.4:c.2921A>G (ERCC5)	ENSP00000478667.1:p.Glu974Gly
NM_000123.3:c.2924A>G , LRG_464t1:c.2924A>G (ERCC5)	NP_000114.2:p.Glu975Gly
NM_001204425.1:c.4286A>G (BIVM-ERCC5)	NP_001191354.1:p.Glu1429Gly
NM_000123.4:c.2924A>G (ERCC5) MANE Select	NP_000114.3:p.Glu975Gly
NM_001204425.2:c.4286A>G (BIVM-ERCC5)	NP_001191354.2:p.Glu1429Gly