Canonical Allele Identifier: CA2115216490
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102875601T= , CM000675.2:g.102875601T= GRCh38
NC_000013.10:g.103527951T= , CM000675.1:g.103527951T= GRCh37
NC_000013.9:g.102325952T= NCBI36
NG_007146.1:g.34778T= , LRG_464:g.34778T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4360T= (ERCC5)
ENST00000682869.1:n.3908T= (ERCC5)
ENST00000683246.1:n.4896T= (ERCC5)
ENST00000683642.1:n.3489T= (ERCC5)
ENST00000639132.1:c.3934T= (BIVM-ERCC5) ENSP00000492684.1:p.Phe1312=
ENST00000639435.1:c.4621T= (BIVM-ERCC5) ENSP00000491742.1:p.Phe1541=
ENST00000651002.1:c.*3020T= (ERCC5) ENSP00000498809.1:n.*3020T=
ENST00000651055.1:n.3386T= (ERCC5)
ENST00000651281.1:n.3627T= (ERCC5)
ENST00000651387.1:n.2743T= (ERCC5)
ENST00000651470.1:c.*431T= (ERCC5) ENSP00000498701.1:n.*431T=
ENST00000652225.2:c.3259T= (ERCC5) MANE Select ENSP00000498881.2:p.Phe1087=
ENST00000652613.1:c.2755T= (ERCC5) ENSP00000498357.1:p.Phe919=
ENST00000355739.8:c.3259T= (ERCC5) ENSP00000347978.4:p.Phe1087=
ENST00000375954.1:c.958T= (ERCC5) ENSP00000365121.1:p.Phe320=
ENST00000472247.1:n.419T= (ERCC5)
ENST00000610537.4:c.3256T= (ERCC5) ENSP00000478667.1:p.Phe1086=
NM_000123.3:c.3259T= , LRG_464t1:c.3259T= (ERCC5) NP_000114.2:p.Phe1087=
NM_001204425.1:c.4621T= (BIVM-ERCC5) NP_001191354.1:p.Phe1541=
NM_000123.4:c.3259T= (ERCC5) MANE Select NP_000114.3:p.Phe1087=
NM_001204425.2:c.4621T= (BIVM-ERCC5) NP_001191354.2:p.Phe1541=