Canonical Allele Identifier: CA388569369

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103508455C>G (hg19) ; chr13:g.102856105C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856105C>G , CM000675.2:g.102856105C>G	GRCh38
NC_000013.10:g.103508455C>G , CM000675.1:g.103508455C>G	GRCh37
NC_000013.9:g.102306456C>G	NCBI36
NG_007146.1:g.15282C>G , LRG_464:g.15282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.762C>G (ERCC5)
ENST00000682869.1:n.1170C>G (ERCC5)
ENST00000683246.1:n.1298C>G (ERCC5)
ENST00000684184.1:n.1167C>G (ERCC5)
ENST00000639132.1:c.1196C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ala399Gly
ENST00000639435.1:c.1883C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ala628Gly
ENST00000651002.1:c.*282C>G (ERCC5)	ENSP00000498809.1:n.*282C>G
ENST00000651055.1:n.650C>G (ERCC5)
ENST00000651281.1:n.889C>G (ERCC5)
ENST00000651470.1:c.521C>G (ERCC5)	ENSP00000498701.1:p.Ala174Gly
ENST00000652225.2:c.521C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ala174Gly
ENST00000652613.1:c.17C>G (ERCC5)	ENSP00000498357.1:p.Ala6Gly
ENST00000355739.8:c.521C>G (ERCC5)	ENSP00000347978.4:p.Ala174Gly
ENST00000535557.5:c.521C>G (ERCC5)	ENSP00000442117.1:p.Ala174Gly
ENST00000602836.1:c.1797C>G (BIVM-ERCC5)
ENST00000610537.4:c.521C>G (ERCC5)	ENSP00000478667.1:p.Ala174Gly
NM_000123.3:c.521C>G , LRG_464t1:c.521C>G (ERCC5)	NP_000114.2:p.Ala174Gly
NM_001204425.1:c.1883C>G (BIVM-ERCC5)	NP_001191354.1:p.Ala628Gly
NM_000123.4:c.521C>G (ERCC5) MANE Select	NP_000114.3:p.Ala174Gly
NM_001204425.2:c.1883C>G (BIVM-ERCC5)	NP_001191354.2:p.Ala628Gly