Canonical Allele Identifier: CA2115215334
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000682632.1:n.4005G= (ERCC5)
ENST00000682869.1:n.3553G= (ERCC5)
ENST00000683246.1:n.4541G= (ERCC5)
ENST00000683642.1:n.3134G= (ERCC5)
ENST00000639132.1:c.3579G= (BIVM-ERCC5) ENSP00000492684.1:p.Trp1193=
ENST00000639435.1:c.4266G= (BIVM-ERCC5) ENSP00000491742.1:p.Trp1422=
ENST00000651002.1:c.*2665G= (ERCC5) ENSP00000498809.1:n.*2665G=
ENST00000651055.1:n.3031G= (ERCC5)
ENST00000651281.1:n.3272G= (ERCC5)
ENST00000651387.1:n.2388G= (ERCC5)
ENST00000651470.1:c.*76G= (ERCC5) ENSP00000498701.1:n.*76G=
ENST00000652225.2:c.2904G= (ERCC5) MANE Select ENSP00000498881.2:p.Trp968=
ENST00000652613.1:c.2400G= (ERCC5) ENSP00000498357.1:p.Trp800=
ENST00000355739.8:c.2904G= (ERCC5) ENSP00000347978.4:p.Trp968=
ENST00000375954.1:c.603G= (ERCC5) ENSP00000365121.1:p.Trp201=
ENST00000610537.4:c.2901G= (ERCC5) ENSP00000478667.1:p.Trp967=
NM_000123.3:c.2904G= , LRG_464t1:c.2904G= (ERCC5) NP_000114.2:p.Trp968=
NM_001204425.1:c.4266G= (BIVM-ERCC5) NP_001191354.1:p.Trp1422=
NM_000123.4:c.2904G= (ERCC5) MANE Select NP_000114.3:p.Trp968=
NM_001204425.2:c.4266G= (BIVM-ERCC5) NP_001191354.2:p.Trp1422=