Canonical Allele Identifier: CA388673483

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525629G>C (hg19) ; chr13:g.102873279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873279G>C , CM000675.2:g.102873279G>C	GRCh38
NC_000013.10:g.103525629G>C , CM000675.1:g.103525629G>C	GRCh37
NC_000013.9:g.102323630G>C	NCBI36
NG_007146.1:g.32456G>C , LRG_464:g.32456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4001G>C (ERCC5)
ENST00000682869.1:n.3549G>C (ERCC5)
ENST00000683246.1:n.4537G>C (ERCC5)
ENST00000683642.1:n.3130G>C (ERCC5)
ENST00000639132.1:c.3575G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1192Ala
ENST00000639435.1:c.4262G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1421Ala
ENST00000651002.1:c.*2661G>C (ERCC5)	ENSP00000498809.1:n.*2661G>C
ENST00000651055.1:n.3027G>C (ERCC5)
ENST00000651281.1:n.3268G>C (ERCC5)
ENST00000651387.1:n.2384G>C (ERCC5)
ENST00000651470.1:c.*72G>C (ERCC5)	ENSP00000498701.1:n.*72G>C
ENST00000652225.2:c.2900G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Gly967Ala
ENST00000652613.1:c.2396G>C (ERCC5)	ENSP00000498357.1:p.Gly799Ala
ENST00000355739.8:c.2900G>C (ERCC5)	ENSP00000347978.4:p.Gly967Ala
ENST00000375954.1:c.599G>C (ERCC5)	ENSP00000365121.1:p.Gly200Ala
ENST00000610537.4:c.2897G>C (ERCC5)	ENSP00000478667.1:p.Gly966Ala
NM_000123.3:c.2900G>C , LRG_464t1:c.2900G>C (ERCC5)	NP_000114.2:p.Gly967Ala
NM_001204425.1:c.4262G>C (BIVM-ERCC5)	NP_001191354.1:p.Gly1421Ala
NM_000123.4:c.2900G>C (ERCC5) MANE Select	NP_000114.3:p.Gly967Ala
NM_001204425.2:c.4262G>C (BIVM-ERCC5)	NP_001191354.2:p.Gly1421Ala