Canonical Allele Identifier: CA7041181

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs369013428
• ExAC: 13:103508426 A / G
• gnomAD v2: 13-103508426-A-G
• MyVariant Identifiers: chr13:g.103508426A>G (hg19) ; chr13:g.102856076A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856076A>G , CM000675.2:g.102856076A>G	GRCh38
NC_000013.10:g.103508426A>G , CM000675.1:g.103508426A>G	GRCh37
NC_000013.9:g.102306427A>G	NCBI36
NG_007146.1:g.15253A>G , LRG_464:g.15253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.733A>G (ERCC5)
ENST00000682869.1:n.1141A>G (ERCC5)
ENST00000683246.1:n.1269A>G (ERCC5)
ENST00000684184.1:n.1138A>G (ERCC5)
ENST00000638434.1:c.590A>G (BIVM-ERCC5)
ENST00000639132.1:c.1167A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Glu389=
ENST00000639435.1:c.1854A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Glu618=
ENST00000651002.1:c.*253A>G (ERCC5)	ENSP00000498809.1:n.*253A>G
ENST00000651055.1:n.621A>G (ERCC5)
ENST00000651281.1:n.860A>G (ERCC5)
ENST00000651470.1:c.492A>G (ERCC5)	ENSP00000498701.1:p.Glu164=
ENST00000652225.2:c.492A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Glu164=
ENST00000652613.1:c.-13A>G (ERCC5)	ENSP00000498357.1:n.-13A>G
ENST00000355739.8:c.492A>G (ERCC5)	ENSP00000347978.4:p.Glu164=
ENST00000535557.5:c.492A>G (ERCC5)	ENSP00000442117.1:p.Glu164=
ENST00000602836.1:c.1768A>G (BIVM-ERCC5)
ENST00000610537.4:c.492A>G (ERCC5)	ENSP00000478667.1:p.Glu164=
NM_000123.3:c.492A>G , LRG_464t1:c.492A>G (ERCC5)	NP_000114.2:p.Glu164=
NM_001204425.1:c.1854A>G (BIVM-ERCC5)	NP_001191354.1:p.Glu618=
NM_000123.4:c.492A>G (ERCC5) MANE Select	NP_000114.3:p.Glu164=
NM_001204425.2:c.1854A>G (BIVM-ERCC5)	NP_001191354.2:p.Glu618=