Canonical Allele Identifier: CA388569264

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 882372
• ClinVar RCV Id: RCV001112013
• dbSNP Id: rs1882405209
• MyVariant Identifiers: chr13:g.103508413A>T (hg19) ; chr13:g.102856063A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856063A>T , CM000675.2:g.102856063A>T	GRCh38
NC_000013.10:g.103508413A>T , CM000675.1:g.103508413A>T	GRCh37
NC_000013.9:g.102306414A>T	NCBI36
NG_007146.1:g.15240A>T , LRG_464:g.15240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.720A>T (ERCC5)
ENST00000682869.1:n.1128A>T (ERCC5)
ENST00000683246.1:n.1256A>T (ERCC5)
ENST00000684184.1:n.1125A>T (ERCC5)
ENST00000638434.1:c.577A>T (BIVM-ERCC5)
ENST00000639132.1:c.1154A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Glu385Val
ENST00000639435.1:c.1841A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Glu614Val
ENST00000651002.1:c.*240A>T (ERCC5)	ENSP00000498809.1:n.*240A>T
ENST00000651055.1:n.608A>T (ERCC5)
ENST00000651281.1:n.847A>T (ERCC5)
ENST00000651470.1:c.479A>T (ERCC5)	ENSP00000498701.1:p.Glu160Val
ENST00000652225.2:c.479A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Glu160Val
ENST00000652613.1:c.-26A>T (ERCC5)	ENSP00000498357.1:n.-26A>T
ENST00000355739.8:c.479A>T (ERCC5)	ENSP00000347978.4:p.Glu160Val
ENST00000535557.5:c.479A>T (ERCC5)	ENSP00000442117.1:p.Glu160Val
ENST00000602836.1:c.1755A>T (BIVM-ERCC5)
ENST00000610537.4:c.479A>T (ERCC5)	ENSP00000478667.1:p.Glu160Val
NM_000123.3:c.479A>T , LRG_464t1:c.479A>T (ERCC5)	NP_000114.2:p.Glu160Val
NM_001204425.1:c.1841A>T (BIVM-ERCC5)	NP_001191354.1:p.Glu614Val
NM_000123.4:c.479A>T (ERCC5) MANE Select	NP_000114.3:p.Glu160Val
NM_001204425.2:c.1841A>T (BIVM-ERCC5)	NP_001191354.2:p.Glu614Val