Canonical Allele Identifier: CA388674991

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527952T>A (hg19) ; chr13:g.102875602T>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875602T>A , CM000675.2:g.102875602T>A	GRCh38
NC_000013.10:g.103527952T>A , CM000675.1:g.103527952T>A	GRCh37
NC_000013.9:g.102325953T>A	NCBI36
NG_007146.1:g.34779T>A , LRG_464:g.34779T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4361T>A (ERCC5)
ENST00000682869.1:n.3909T>A (ERCC5)
ENST00000683246.1:n.4897T>A (ERCC5)
ENST00000683642.1:n.3490T>A (ERCC5)
ENST00000639132.1:c.3935T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Phe1312Tyr
ENST00000639435.1:c.4622T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Phe1541Tyr
ENST00000651002.1:c.*3021T>A (ERCC5)	ENSP00000498809.1:n.*3021T>A
ENST00000651055.1:n.3387T>A (ERCC5)
ENST00000651281.1:n.3628T>A (ERCC5)
ENST00000651387.1:n.2744T>A (ERCC5)
ENST00000651470.1:c.*432T>A (ERCC5)	ENSP00000498701.1:n.*432T>A
ENST00000652225.2:c.3260T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Phe1087Tyr
ENST00000652613.1:c.2756T>A (ERCC5)	ENSP00000498357.1:p.Phe919Tyr
ENST00000355739.8:c.3260T>A (ERCC5)	ENSP00000347978.4:p.Phe1087Tyr
ENST00000375954.1:c.959T>A (ERCC5)	ENSP00000365121.1:p.Phe320Tyr
ENST00000472247.1:n.420T>A (ERCC5)
ENST00000610537.4:c.3257T>A (ERCC5)	ENSP00000478667.1:p.Phe1086Tyr
NM_000123.3:c.3260T>A , LRG_464t1:c.3260T>A (ERCC5)	NP_000114.2:p.Phe1087Tyr
NM_001204425.1:c.4622T>A (BIVM-ERCC5)	NP_001191354.1:p.Phe1541Tyr
NM_000123.4:c.3260T>A (ERCC5) MANE Select	NP_000114.3:p.Phe1087Tyr
NM_001204425.2:c.4622T>A (BIVM-ERCC5)	NP_001191354.2:p.Phe1541Tyr