Canonical Allele Identifier: CA484859199
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs2140539899
MyVariant Identifiers: chr13:g.103525621G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873271G>C , CM000675.2:g.102873271G>C GRCh38
NC_000013.10:g.103525621G>C , CM000675.1:g.103525621G>C GRCh37
NC_000013.9:g.102323622G>C NCBI36
NG_007146.1:g.32448G>C , LRG_464:g.32448G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.3993G>C (ERCC5)
ENST00000682869.1:n.3541G>C (ERCC5)
ENST00000683246.1:n.4529G>C (ERCC5)
ENST00000683642.1:n.3122G>C (ERCC5)
ENST00000639132.1:c.3567G>C (BIVM-ERCC5) ENSP00000492684.1:p.Arg1189=
ENST00000639435.1:c.4254G>C (BIVM-ERCC5) ENSP00000491742.1:p.Arg1418=
ENST00000651002.1:c.*2653G>C (ERCC5) ENSP00000498809.1:n.*2653G>C
ENST00000651055.1:n.3019G>C (ERCC5)
ENST00000651281.1:n.3260G>C (ERCC5)
ENST00000651387.1:n.2376G>C (ERCC5)
ENST00000651470.1:c.*64G>C (ERCC5) ENSP00000498701.1:n.*64G>C
ENST00000652225.2:c.2892G>C (ERCC5) MANE Select ENSP00000498881.2:p.Arg964=
ENST00000652613.1:c.2388G>C (ERCC5) ENSP00000498357.1:p.Arg796=
ENST00000355739.8:c.2892G>C (ERCC5) ENSP00000347978.4:p.Arg964=
ENST00000375954.1:c.591G>C (ERCC5) ENSP00000365121.1:p.Arg197=
ENST00000610537.4:c.2889G>C (ERCC5) ENSP00000478667.1:p.Arg963=
NM_000123.3:c.2892G>C , LRG_464t1:c.2892G>C (ERCC5) NP_000114.2:p.Arg964=
NM_001204425.1:c.4254G>C (BIVM-ERCC5) NP_001191354.1:p.Arg1418=
NM_000123.4:c.2892G>C (ERCC5) MANE Select NP_000114.3:p.Arg964=
NM_001204425.2:c.4254G>C (BIVM-ERCC5) NP_001191354.2:p.Arg1418=