Canonical Allele Identifier: CA388673577

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525673A>C (hg19) ; chr13:g.102873323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873323A>C , CM000675.2:g.102873323A>C	GRCh38
NC_000013.10:g.103525673A>C , CM000675.1:g.103525673A>C	GRCh37
NC_000013.9:g.102323674A>C	NCBI36
NG_007146.1:g.32500A>C , LRG_464:g.32500A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4045A>C (ERCC5)
ENST00000682869.1:n.3593A>C (ERCC5)
ENST00000683246.1:n.4581A>C (ERCC5)
ENST00000683642.1:n.3174A>C (ERCC5)
ENST00000639132.1:c.3619A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1207Gln
ENST00000639435.1:c.4306A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1436Gln
ENST00000651002.1:c.*2705A>C (ERCC5)	ENSP00000498809.1:n.*2705A>C
ENST00000651055.1:n.3071A>C (ERCC5)
ENST00000651281.1:n.3312A>C (ERCC5)
ENST00000651387.1:n.2428A>C (ERCC5)
ENST00000651470.1:c.*116A>C (ERCC5)	ENSP00000498701.1:n.*116A>C
ENST00000652225.2:c.2944A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Lys982Gln
ENST00000652613.1:c.2440A>C (ERCC5)	ENSP00000498357.1:p.Lys814Gln
ENST00000355739.8:c.2944A>C (ERCC5)	ENSP00000347978.4:p.Lys982Gln
ENST00000375954.1:c.643A>C (ERCC5)	ENSP00000365121.1:p.Lys215Gln
ENST00000610537.4:c.2941A>C (ERCC5)	ENSP00000478667.1:p.Lys981Gln
NM_000123.3:c.2944A>C , LRG_464t1:c.2944A>C (ERCC5)	NP_000114.2:p.Lys982Gln
NM_001204425.1:c.4306A>C (BIVM-ERCC5)	NP_001191354.1:p.Lys1436Gln
NM_000123.4:c.2944A>C (ERCC5) MANE Select	NP_000114.3:p.Lys982Gln
NM_001204425.2:c.4306A>C (BIVM-ERCC5)	NP_001191354.2:p.Lys1436Gln