Canonical Allele Identifier: CA2115216494
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102875610G= , CM000675.2:g.102875610G= GRCh38
NC_000013.10:g.103527960G= , CM000675.1:g.103527960G= GRCh37
NC_000013.9:g.102325961G= NCBI36
NG_007146.1:g.34787G= , LRG_464:g.34787G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4369G= (ERCC5)
ENST00000682869.1:n.3917G= (ERCC5)
ENST00000683246.1:n.4905G= (ERCC5)
ENST00000683642.1:n.3498G= (ERCC5)
ENST00000639132.1:c.3943G= (BIVM-ERCC5) ENSP00000492684.1:p.Glu1315=
ENST00000639435.1:c.4630G= (BIVM-ERCC5) ENSP00000491742.1:p.Glu1544=
ENST00000651002.1:c.*3029G= (ERCC5) ENSP00000498809.1:n.*3029G=
ENST00000651055.1:n.3395G= (ERCC5)
ENST00000651281.1:n.3636G= (ERCC5)
ENST00000651387.1:n.2752G= (ERCC5)
ENST00000651470.1:c.*440G= (ERCC5) ENSP00000498701.1:n.*440G=
ENST00000652225.2:c.3268G= (ERCC5) MANE Select ENSP00000498881.2:p.Glu1090=
ENST00000652613.1:c.2764G= (ERCC5) ENSP00000498357.1:p.Glu922=
ENST00000355739.8:c.3268G= (ERCC5) ENSP00000347978.4:p.Glu1090=
ENST00000375954.1:c.967G= (ERCC5) ENSP00000365121.1:p.Glu323=
ENST00000472247.1:n.428G= (ERCC5)
ENST00000610537.4:c.3265G= (ERCC5) ENSP00000478667.1:p.Glu1089=
NM_000123.3:c.3268G= , LRG_464t1:c.3268G= (ERCC5) NP_000114.2:p.Glu1090=
NM_001204425.1:c.4630G= (BIVM-ERCC5) NP_001191354.1:p.Glu1544=
NM_000123.4:c.3268G= (ERCC5) MANE Select NP_000114.3:p.Glu1090=
NM_001204425.2:c.4630G= (BIVM-ERCC5) NP_001191354.2:p.Glu1544=