Canonical Allele Identifier: CA388673430

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873263-T-G
• MyVariant Identifiers: chr13:g.103525613T>G (hg19) ; chr13:g.102873263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873263T>G , CM000675.2:g.102873263T>G	GRCh38
NC_000013.10:g.103525613T>G , CM000675.1:g.103525613T>G	GRCh37
NC_000013.9:g.102323614T>G	NCBI36
NG_007146.1:g.32440T>G , LRG_464:g.32440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3985T>G (ERCC5)
ENST00000682869.1:n.3533T>G (ERCC5)
ENST00000683246.1:n.4521T>G (ERCC5)
ENST00000683642.1:n.3114T>G (ERCC5)
ENST00000639132.1:c.3559T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1187Gly
ENST00000639435.1:c.4246T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1416Gly
ENST00000651002.1:c.*2645T>G (ERCC5)	ENSP00000498809.1:n.*2645T>G
ENST00000651055.1:n.3011T>G (ERCC5)
ENST00000651281.1:n.3252T>G (ERCC5)
ENST00000651387.1:n.2368T>G (ERCC5)
ENST00000651470.1:c.*56T>G (ERCC5)	ENSP00000498701.1:n.*56T>G
ENST00000652225.2:c.2884T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Cys962Gly
ENST00000652613.1:c.2380T>G (ERCC5)	ENSP00000498357.1:p.Cys794Gly
ENST00000355739.8:c.2884T>G (ERCC5)	ENSP00000347978.4:p.Cys962Gly
ENST00000375954.1:c.583T>G (ERCC5)	ENSP00000365121.1:p.Cys195Gly
ENST00000610537.4:c.2881T>G (ERCC5)	ENSP00000478667.1:p.Cys961Gly
NM_000123.3:c.2884T>G , LRG_464t1:c.2884T>G (ERCC5)	NP_000114.2:p.Cys962Gly
NM_001204425.1:c.4246T>G (BIVM-ERCC5)	NP_001191354.1:p.Cys1416Gly
NM_000123.4:c.2884T>G (ERCC5) MANE Select	NP_000114.3:p.Cys962Gly
NM_001204425.2:c.4246T>G (BIVM-ERCC5)	NP_001191354.2:p.Cys1416Gly