Canonical Allele Identifier: CA388673414

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525609A>T (hg19) ; chr13:g.102873259A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873259A>T , CM000675.2:g.102873259A>T	GRCh38
NC_000013.10:g.103525609A>T , CM000675.1:g.103525609A>T	GRCh37
NC_000013.9:g.102323610A>T	NCBI36
NG_007146.1:g.32436A>T , LRG_464:g.32436A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3981A>T (ERCC5)
ENST00000682869.1:n.3529A>T (ERCC5)
ENST00000683246.1:n.4517A>T (ERCC5)
ENST00000683642.1:n.3110A>T (ERCC5)
ENST00000639132.1:c.3555A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1185Asp
ENST00000639435.1:c.4242A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1414Asp
ENST00000651002.1:c.*2641A>T (ERCC5)	ENSP00000498809.1:n.*2641A>T
ENST00000651055.1:n.3009-2A>T (ERCC5)
ENST00000651281.1:n.3248A>T (ERCC5)
ENST00000651387.1:n.2364A>T (ERCC5)
ENST00000651470.1:c.*52A>T (ERCC5)	ENSP00000498701.1:n.*52A>T
ENST00000652225.2:c.2880A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Glu960Asp
ENST00000652613.1:c.2376A>T (ERCC5)	ENSP00000498357.1:p.Glu792Asp
ENST00000355739.8:c.2880A>T (ERCC5)	ENSP00000347978.4:p.Glu960Asp
ENST00000375954.1:c.579A>T (ERCC5)	ENSP00000365121.1:p.Glu193Asp
ENST00000610537.4:c.2877A>T (ERCC5)	ENSP00000478667.1:p.Glu959Asp
NM_000123.3:c.2880A>T , LRG_464t1:c.2880A>T (ERCC5)	NP_000114.2:p.Glu960Asp
NM_001204425.1:c.4242A>T (BIVM-ERCC5)	NP_001191354.1:p.Glu1414Asp
NM_000123.4:c.2880A>T (ERCC5) MANE Select	NP_000114.3:p.Glu960Asp
NM_001204425.2:c.4242A>T (BIVM-ERCC5)	NP_001191354.2:p.Glu1414Asp