Canonical Allele Identifier: CA2115208008
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102856070A= , CM000675.2:g.102856070A= GRCh38
NC_000013.10:g.103508420A= , CM000675.1:g.103508420A= GRCh37
NC_000013.9:g.102306421A= NCBI36
NG_007146.1:g.15247A= , LRG_464:g.15247A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.727A= (ERCC5)
ENST00000682869.1:n.1135A= (ERCC5)
ENST00000683246.1:n.1263A= (ERCC5)
ENST00000684184.1:n.1132A= (ERCC5)
ENST00000638434.1:c.584A= (BIVM-ERCC5)
ENST00000639132.1:c.1161A= (BIVM-ERCC5) ENSP00000492684.1:p.Glu387=
ENST00000639435.1:c.1848A= (BIVM-ERCC5) ENSP00000491742.1:p.Glu616=
ENST00000651002.1:c.*247A= (ERCC5) ENSP00000498809.1:n.*247A=
ENST00000651055.1:n.615A= (ERCC5)
ENST00000651281.1:n.854A= (ERCC5)
ENST00000651470.1:c.486A= (ERCC5) ENSP00000498701.1:p.Glu162=
ENST00000652225.2:c.486A= (ERCC5) MANE Select ENSP00000498881.2:p.Glu162=
ENST00000652613.1:c.-19A= (ERCC5) ENSP00000498357.1:n.-19A=
ENST00000355739.8:c.486A= (ERCC5) ENSP00000347978.4:p.Glu162=
ENST00000535557.5:c.486A= (ERCC5) ENSP00000442117.1:p.Glu162=
ENST00000602836.1:c.1762A= (BIVM-ERCC5)
ENST00000610537.4:c.486A= (ERCC5) ENSP00000478667.1:p.Glu162=
NM_000123.3:c.486A= , LRG_464t1:c.486A= (ERCC5) NP_000114.2:p.Glu162=
NM_001204425.1:c.1848A= (BIVM-ERCC5) NP_001191354.1:p.Glu616=
NM_000123.4:c.486A= (ERCC5) MANE Select NP_000114.3:p.Glu162=
NM_001204425.2:c.1848A= (BIVM-ERCC5) NP_001191354.2:p.Glu616=