Canonical Allele Identifier: CA261272
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 41496
ClinVar RCV Id: RCV000034377
dbSNP Id: rs267607280

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873283G>C , CM000675.2:g.102873283G>C GRCh38
NC_000013.10:g.103525633G>C , CM000675.1:g.103525633G>C GRCh37
NC_000013.9:g.102323634G>C NCBI36
NG_007146.1:g.32460G>C , LRG_464:g.32460G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4005G>C (ERCC5)
ENST00000682869.1:n.3553G>C (ERCC5)
ENST00000683246.1:n.4541G>C (ERCC5)
ENST00000683642.1:n.3134G>C (ERCC5)
ENST00000639132.1:c.3579G>C (BIVM-ERCC5) ENSP00000492684.1:p.Trp1193Cys
ENST00000639435.1:c.4266G>C (BIVM-ERCC5) ENSP00000491742.1:p.Trp1422Cys
ENST00000651002.1:c.*2665G>C (ERCC5) ENSP00000498809.1:n.*2665G>C
ENST00000651055.1:n.3031G>C (ERCC5)
ENST00000651281.1:n.3272G>C (ERCC5)
ENST00000651387.1:n.2388G>C (ERCC5)
ENST00000651470.1:c.*76G>C (ERCC5) ENSP00000498701.1:n.*76G>C
ENST00000652225.2:c.2904G>C (ERCC5) MANE Select ENSP00000498881.2:p.Trp968Cys
ENST00000652613.1:c.2400G>C (ERCC5) ENSP00000498357.1:p.Trp800Cys
ENST00000355739.8:c.2904G>C (ERCC5) ENSP00000347978.4:p.Trp968Cys
ENST00000375954.1:c.603G>C (ERCC5) ENSP00000365121.1:p.Trp201Cys
ENST00000610537.4:c.2901G>C (ERCC5) ENSP00000478667.1:p.Trp967Cys
NM_000123.3:c.2904G>C , LRG_464t1:c.2904G>C (ERCC5) NP_000114.2:p.Trp968Cys
NM_001204425.1:c.4266G>C (BIVM-ERCC5) NP_001191354.1:p.Trp1422Cys
NM_000123.4:c.2904G>C (ERCC5) MANE Select NP_000114.3:p.Trp968Cys
NM_001204425.2:c.4266G>C (BIVM-ERCC5) NP_001191354.2:p.Trp1422Cys