Canonical Allele Identifier: CA126680
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 16571
ClinVar RCV Id: RCV000018039
dbSNP Id: rs121434573

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102856110C>T , CM000675.2:g.102856110C>T GRCh38
NC_000013.10:g.103508460C>T , CM000675.1:g.103508460C>T GRCh37
NC_000013.9:g.102306461C>T NCBI36
NG_007146.1:g.15287C>T , LRG_464:g.15287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.767C>T (ERCC5)
ENST00000682869.1:n.1175C>T (ERCC5)
ENST00000683246.1:n.1303C>T (ERCC5)
ENST00000684184.1:n.1172C>T (ERCC5)
ENST00000639132.1:c.1201C>T (BIVM-ERCC5) ENSP00000492684.1:p.Gln401Ter
ENST00000639435.1:c.1888C>T (BIVM-ERCC5) ENSP00000491742.1:p.Gln630Ter
ENST00000651002.1:c.*287C>T (ERCC5) ENSP00000498809.1:n.*287C>T
ENST00000651055.1:n.655C>T (ERCC5)
ENST00000651281.1:n.894C>T (ERCC5)
ENST00000651470.1:c.526C>T (ERCC5) ENSP00000498701.1:p.Gln176Ter
ENST00000652225.2:c.526C>T (ERCC5) MANE Select ENSP00000498881.2:p.Gln176Ter
ENST00000652613.1:c.22C>T (ERCC5) ENSP00000498357.1:p.Gln8Ter
ENST00000355739.8:c.526C>T (ERCC5) ENSP00000347978.4:p.Gln176Ter
ENST00000535557.5:c.526C>T (ERCC5) ENSP00000442117.1:p.Gln176Ter
ENST00000602836.1:c.1802C>T (BIVM-ERCC5)
ENST00000610537.4:c.526C>T (ERCC5) ENSP00000478667.1:p.Gln176Ter
NM_000123.3:c.526C>T , LRG_464t1:c.526C>T (ERCC5) NP_000114.2:p.Gln176Ter
NM_001204425.1:c.1888C>T (BIVM-ERCC5) NP_001191354.1:p.Gln630Ter
NM_000123.4:c.526C>T (ERCC5) MANE Select NP_000114.3:p.Gln176Ter
NM_001204425.2:c.1888C>T (BIVM-ERCC5) NP_001191354.2:p.Gln630Ter