Canonical Allele Identifier: CA484859234

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525687C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873337C>A , CM000675.2:g.102873337C>A	GRCh38
NC_000013.10:g.103525687C>A , CM000675.1:g.103525687C>A	GRCh37
NC_000013.9:g.102323688C>A	NCBI36
NG_007146.1:g.32514C>A , LRG_464:g.32514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4059C>A (ERCC5)
ENST00000682869.1:n.3607C>A (ERCC5)
ENST00000683246.1:n.4595C>A (ERCC5)
ENST00000683642.1:n.3188C>A (ERCC5)
ENST00000639132.1:c.3633C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1211=
ENST00000639435.1:c.4320C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1440=
ENST00000651002.1:c.*2719C>A (ERCC5)	ENSP00000498809.1:n.*2719C>A
ENST00000651055.1:n.3085C>A (ERCC5)
ENST00000651281.1:n.3326C>A (ERCC5)
ENST00000651387.1:n.2442C>A (ERCC5)
ENST00000651470.1:c.*130C>A (ERCC5)	ENSP00000498701.1:n.*130C>A
ENST00000652225.2:c.2958C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala986=
ENST00000652613.1:c.2454C>A (ERCC5)	ENSP00000498357.1:p.Ala818=
ENST00000355739.8:c.2958C>A (ERCC5)	ENSP00000347978.4:p.Ala986=
ENST00000375954.1:c.657C>A (ERCC5)	ENSP00000365121.1:p.Ala219=
ENST00000610537.4:c.2955C>A (ERCC5)	ENSP00000478667.1:p.Ala985=
NM_000123.3:c.2958C>A , LRG_464t1:c.2958C>A (ERCC5)	NP_000114.2:p.Ala986=
NM_001204425.1:c.4320C>A (BIVM-ERCC5)	NP_001191354.1:p.Ala1440=
NM_000123.4:c.2958C>A (ERCC5) MANE Select	NP_000114.3:p.Ala986=
NM_001204425.2:c.4320C>A (BIVM-ERCC5)	NP_001191354.2:p.Ala1440=