Canonical Allele Identifier: CA255220120

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs771590840
• gnomAD v4: 13-102856109-A-G
• MyVariant Identifiers: chr13:g.103508459A>G (hg19) ; chr13:g.102856109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856109A>G , CM000675.2:g.102856109A>G	GRCh38
NC_000013.10:g.103508459A>G , CM000675.1:g.103508459A>G	GRCh37
NC_000013.9:g.102306460A>G	NCBI36
NG_007146.1:g.15286A>G , LRG_464:g.15286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.766A>G (ERCC5)
ENST00000682869.1:n.1174A>G (ERCC5)
ENST00000683246.1:n.1302A>G (ERCC5)
ENST00000684184.1:n.1171A>G (ERCC5)
ENST00000639132.1:c.1200A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Leu400=
ENST00000639435.1:c.1887A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Leu629=
ENST00000651002.1:c.*286A>G (ERCC5)	ENSP00000498809.1:n.*286A>G
ENST00000651055.1:n.654A>G (ERCC5)
ENST00000651281.1:n.893A>G (ERCC5)
ENST00000651470.1:c.525A>G (ERCC5)	ENSP00000498701.1:p.Leu175=
ENST00000652225.2:c.525A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Leu175=
ENST00000652613.1:c.21A>G (ERCC5)	ENSP00000498357.1:p.Leu7=
ENST00000355739.8:c.525A>G (ERCC5)	ENSP00000347978.4:p.Leu175=
ENST00000535557.5:c.525A>G (ERCC5)	ENSP00000442117.1:p.Leu175=
ENST00000602836.1:c.1801A>G (BIVM-ERCC5)
ENST00000610537.4:c.525A>G (ERCC5)	ENSP00000478667.1:p.Leu175=
NM_000123.3:c.525A>G , LRG_464t1:c.525A>G (ERCC5)	NP_000114.2:p.Leu175=
NM_001204425.1:c.1887A>G (BIVM-ERCC5)	NP_001191354.1:p.Leu629=
NM_000123.4:c.525A>G (ERCC5) MANE Select	NP_000114.3:p.Leu175=
NM_001204425.2:c.1887A>G (BIVM-ERCC5)	NP_001191354.2:p.Leu629=