Canonical Allele Identifier: CA388576309

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102866687-C-G
• MyVariant Identifiers: chr13:g.103519037C>G (hg19) ; chr13:g.102866687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866687C>G , CM000675.2:g.102866687C>G	GRCh38
NC_000013.10:g.103519037C>G , CM000675.1:g.103519037C>G	GRCh37
NC_000013.9:g.102317038C>G	NCBI36
NG_007146.1:g.25864C>G , LRG_464:g.25864C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2616C>G (ERCC5)
ENST00000682869.1:n.3024C>G (ERCC5)
ENST00000683246.1:n.3152C>G (ERCC5)
ENST00000639132.1:c.3050C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1017Gly
ENST00000639435.1:c.3737C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1246Gly
ENST00000651002.1:c.*2136C>G (ERCC5)	ENSP00000498809.1:n.*2136C>G
ENST00000651055.1:n.2504C>G (ERCC5)
ENST00000651281.1:n.2743C>G (ERCC5)
ENST00000651387.1:n.1859C>G (ERCC5)
ENST00000651470.1:c.2375C>G (ERCC5)	ENSP00000498701.1:p.Ala792Gly
ENST00000652225.2:c.2375C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ala792Gly
ENST00000652613.1:c.1871C>G (ERCC5)	ENSP00000498357.1:p.Ala624Gly
ENST00000355739.8:c.2375C>G (ERCC5)	ENSP00000347978.4:p.Ala792Gly
ENST00000375954.1:c.74C>G (ERCC5)	ENSP00000365121.1:p.Ala25Gly
ENST00000481099.1:n.495C>G (ERCC5)
ENST00000602836.1:c.3651C>G (BIVM-ERCC5)
ENST00000610537.4:c.2375C>G (ERCC5)	ENSP00000478667.1:p.Ala792Gly
NM_000123.3:c.2375C>G , LRG_464t1:c.2375C>G (ERCC5)	NP_000114.2:p.Ala792Gly
NM_001204425.1:c.3737C>G (BIVM-ERCC5)	NP_001191354.1:p.Ala1246Gly
NM_000123.4:c.2375C>G (ERCC5) MANE Select	NP_000114.3:p.Ala792Gly
NM_001204425.2:c.3737C>G (BIVM-ERCC5)	NP_001191354.2:p.Ala1246Gly