Canonical Allele Identifier: CA484983432

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527920A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875570A>T , CM000675.2:g.102875570A>T	GRCh38
NC_000013.10:g.103527920A>T , CM000675.1:g.103527920A>T	GRCh37
NC_000013.9:g.102325921A>T	NCBI36
NG_007146.1:g.34747A>T , LRG_464:g.34747A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4329A>T (ERCC5)
ENST00000682869.1:n.3877A>T (ERCC5)
ENST00000683246.1:n.4865A>T (ERCC5)
ENST00000683642.1:n.3458A>T (ERCC5)
ENST00000639132.1:c.3903A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1301=
ENST00000639435.1:c.4590A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1530=
ENST00000651002.1:c.*2989A>T (ERCC5)	ENSP00000498809.1:n.*2989A>T
ENST00000651055.1:n.3355A>T (ERCC5)
ENST00000651281.1:n.3596A>T (ERCC5)
ENST00000651387.1:n.2712A>T (ERCC5)
ENST00000651470.1:c.*400A>T (ERCC5)	ENSP00000498701.1:n.*400A>T
ENST00000652225.2:c.3228A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1076=
ENST00000652613.1:c.2724A>T (ERCC5)	ENSP00000498357.1:p.Ser908=
ENST00000355739.8:c.3228A>T (ERCC5)	ENSP00000347978.4:p.Ser1076=
ENST00000375954.1:c.927A>T (ERCC5)	ENSP00000365121.1:p.Ser309=
ENST00000472247.1:n.388A>T (ERCC5)
ENST00000610537.4:c.3225A>T (ERCC5)	ENSP00000478667.1:p.Ser1075=
NM_000123.3:c.3228A>T , LRG_464t1:c.3228A>T (ERCC5)	NP_000114.2:p.Ser1076=
NM_001204425.1:c.4590A>T (BIVM-ERCC5)	NP_001191354.1:p.Ser1530=
NM_000123.4:c.3228A>T (ERCC5) MANE Select	NP_000114.3:p.Ser1076=
NM_001204425.2:c.4590A>T (BIVM-ERCC5)	NP_001191354.2:p.Ser1530=