Canonical Allele Identifier: CA2115216492

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875605T= , CM000675.2:g.102875605T=	GRCh38
NC_000013.10:g.103527955T= , CM000675.1:g.103527955T=	GRCh37
NC_000013.9:g.102325956T=	NCBI36
NG_007146.1:g.34782T= , LRG_464:g.34782T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4364T= (ERCC5)
ENST00000682869.1:n.3912T= (ERCC5)
ENST00000683246.1:n.4900T= (ERCC5)
ENST00000683642.1:n.3493T= (ERCC5)
ENST00000639132.1:c.3938T= (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1313=
ENST00000639435.1:c.4625T= (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1542=
ENST00000651002.1:c.*3024T= (ERCC5)	ENSP00000498809.1:n.*3024T=
ENST00000651055.1:n.3390T= (ERCC5)
ENST00000651281.1:n.3631T= (ERCC5)
ENST00000651387.1:n.2747T= (ERCC5)
ENST00000651470.1:c.*435T= (ERCC5)	ENSP00000498701.1:n.*435T=
ENST00000652225.2:c.3263T= (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1088=
ENST00000652613.1:c.2759T= (ERCC5)	ENSP00000498357.1:p.Leu920=
ENST00000355739.8:c.3263T= (ERCC5)	ENSP00000347978.4:p.Leu1088=
ENST00000375954.1:c.962T= (ERCC5)	ENSP00000365121.1:p.Leu321=
ENST00000472247.1:n.423T= (ERCC5)
ENST00000610537.4:c.3260T= (ERCC5)	ENSP00000478667.1:p.Leu1087=
NM_000123.3:c.3263T= , LRG_464t1:c.3263T= (ERCC5)	NP_000114.2:p.Leu1088=
NM_001204425.1:c.4625T= (BIVM-ERCC5)	NP_001191354.1:p.Leu1542=
NM_000123.4:c.3263T= (ERCC5) MANE Select	NP_000114.3:p.Leu1088=
NM_001204425.2:c.4625T= (BIVM-ERCC5)	NP_001191354.2:p.Leu1542=