Canonical Allele Identifier: CA2115210993

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862846A= , CM000675.2:g.102862846A=	GRCh38
NC_000013.10:g.103515196A= , CM000675.1:g.103515196A=	GRCh37
NC_000013.9:g.102313197A=	NCBI36
NG_007146.1:g.22023A= , LRG_464:g.22023A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1938A= (ERCC5)
ENST00000682869.1:n.2346A= (ERCC5)
ENST00000683246.1:n.2474A= (ERCC5)
ENST00000639132.1:c.2372A= (BIVM-ERCC5)	ENSP00000492684.1:p.Glu791=
ENST00000639435.1:c.3059A= (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1020=
ENST00000651002.1:c.*1458A= (ERCC5)	ENSP00000498809.1:n.*1458A=
ENST00000651055.1:n.1826A= (ERCC5)
ENST00000651281.1:n.2065A= (ERCC5)
ENST00000651387.1:n.1181A= (ERCC5)
ENST00000651470.1:c.1697A= (ERCC5)	ENSP00000498701.1:p.Glu566=
ENST00000652225.2:c.1697A= (ERCC5) MANE Select	ENSP00000498881.2:p.Glu566=
ENST00000652613.1:c.1193A= (ERCC5)	ENSP00000498357.1:p.Glu398=
ENST00000355739.8:c.1697A= (ERCC5)	ENSP00000347978.4:p.Glu566=
ENST00000602836.1:c.2973A= (BIVM-ERCC5)
ENST00000610537.4:c.1697A= (ERCC5)	ENSP00000478667.1:p.Glu566=
NM_000123.3:c.1697A= , LRG_464t1:c.1697A= (ERCC5)	NP_000114.2:p.Glu566=
NM_001204425.1:c.3059A= (BIVM-ERCC5)	NP_001191354.1:p.Glu1020=
NM_000123.4:c.1697A= (ERCC5) MANE Select	NP_000114.3:p.Glu566=
NM_001204425.2:c.3059A= (BIVM-ERCC5)	NP_001191354.2:p.Glu1020=