Canonical Allele Identifier: CA388675013

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs751060625
• gnomAD v2: 13-103527963-A-G
• MyVariant Identifiers: chr13:g.103527963A>G (hg19) ; chr13:g.102875613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875613A>G , CM000675.2:g.102875613A>G	GRCh38
NC_000013.10:g.103527963A>G , CM000675.1:g.103527963A>G	GRCh37
NC_000013.9:g.102325964A>G	NCBI36
NG_007146.1:g.34790A>G , LRG_464:g.34790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4372A>G (ERCC5)
ENST00000682869.1:n.3920A>G (ERCC5)
ENST00000683246.1:n.4908A>G (ERCC5)
ENST00000683642.1:n.3501A>G (ERCC5)
ENST00000639132.1:c.3946A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1316Ala
ENST00000639435.1:c.4633A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1545Ala
ENST00000651002.1:c.*3032A>G (ERCC5)	ENSP00000498809.1:n.*3032A>G
ENST00000651055.1:n.3398A>G (ERCC5)
ENST00000651281.1:n.3639A>G (ERCC5)
ENST00000651387.1:n.2755A>G (ERCC5)
ENST00000651470.1:c.*443A>G (ERCC5)	ENSP00000498701.1:n.*443A>G
ENST00000652225.2:c.3271A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr1091Ala
ENST00000652613.1:c.2767A>G (ERCC5)	ENSP00000498357.1:p.Thr923Ala
ENST00000355739.8:c.3271A>G (ERCC5)	ENSP00000347978.4:p.Thr1091Ala
ENST00000375954.1:c.970A>G (ERCC5)	ENSP00000365121.1:p.Thr324Ala
ENST00000472247.1:n.431A>G (ERCC5)
ENST00000610537.4:c.3268A>G (ERCC5)	ENSP00000478667.1:p.Thr1090Ala
NM_000123.3:c.3271A>G , LRG_464t1:c.3271A>G (ERCC5)	NP_000114.2:p.Thr1091Ala
NM_001204425.1:c.4633A>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1545Ala
NM_000123.4:c.3271A>G (ERCC5) MANE Select	NP_000114.3:p.Thr1091Ala
NM_001204425.2:c.4633A>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1545Ala