Canonical Allele Identifier: CA7041870

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs777710906
• ExAC: 13:103528009 A / T
• gnomAD v2: 13-103528009-A-T
• gnomAD v4: 13-102875659-A-T
• MyVariant Identifiers: chr13:g.103528009A>T (hg19) ; chr13:g.102875659A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875659A>T , CM000675.2:g.102875659A>T	GRCh38
NC_000013.10:g.103528009A>T , CM000675.1:g.103528009A>T	GRCh37
NC_000013.9:g.102326010A>T	NCBI36
NG_007146.1:g.34836A>T , LRG_464:g.34836A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4418A>T (ERCC5)
ENST00000682869.1:n.3966A>T (ERCC5)
ENST00000683246.1:n.4954A>T (ERCC5)
ENST00000683642.1:n.3547A>T (ERCC5)
ENST00000639132.1:c.3992A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1331Val
ENST00000639435.1:c.4679A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1560Val
ENST00000651002.1:c.*3078A>T (ERCC5)	ENSP00000498809.1:n.*3078A>T
ENST00000651055.1:n.3444A>T (ERCC5)
ENST00000651281.1:n.3685A>T (ERCC5)
ENST00000651387.1:n.2801A>T (ERCC5)
ENST00000651470.1:c.*489A>T (ERCC5)	ENSP00000498701.1:n.*489A>T
ENST00000652225.2:c.3317A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1106Val
ENST00000652613.1:c.2813A>T (ERCC5)	ENSP00000498357.1:p.Glu938Val
ENST00000355739.8:c.3317A>T (ERCC5)	ENSP00000347978.4:p.Glu1106Val
ENST00000375954.1:c.1016A>T (ERCC5)	ENSP00000365121.1:p.Glu339Val
ENST00000472247.1:n.477A>T (ERCC5)
ENST00000610537.4:c.3314A>T (ERCC5)	ENSP00000478667.1:p.Glu1105Val
NM_000123.3:c.3317A>T , LRG_464t1:c.3317A>T (ERCC5)	NP_000114.2:p.Glu1106Val
NM_001204425.1:c.4679A>T (BIVM-ERCC5)	NP_001191354.1:p.Glu1560Val
NM_000123.4:c.3317A>T (ERCC5) MANE Select	NP_000114.3:p.Glu1106Val
NM_001204425.2:c.4679A>T (BIVM-ERCC5)	NP_001191354.2:p.Glu1560Val