Canonical Allele Identifier: CA388675107

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528006C>A (hg19) ; chr13:g.102875656C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875656C>A , CM000675.2:g.102875656C>A	GRCh38
NC_000013.10:g.103528006C>A , CM000675.1:g.103528006C>A	GRCh37
NC_000013.9:g.102326007C>A	NCBI36
NG_007146.1:g.34833C>A , LRG_464:g.34833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4415C>A (ERCC5)
ENST00000682869.1:n.3963C>A (ERCC5)
ENST00000683246.1:n.4951C>A (ERCC5)
ENST00000683642.1:n.3544C>A (ERCC5)
ENST00000639132.1:c.3989C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1330Asp
ENST00000639435.1:c.4676C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1559Asp
ENST00000651002.1:c.*3075C>A (ERCC5)	ENSP00000498809.1:n.*3075C>A
ENST00000651055.1:n.3441C>A (ERCC5)
ENST00000651281.1:n.3682C>A (ERCC5)
ENST00000651387.1:n.2798C>A (ERCC5)
ENST00000651470.1:c.*486C>A (ERCC5)	ENSP00000498701.1:n.*486C>A
ENST00000652225.2:c.3314C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala1105Asp
ENST00000652613.1:c.2810C>A (ERCC5)	ENSP00000498357.1:p.Ala937Asp
ENST00000355739.8:c.3314C>A (ERCC5)	ENSP00000347978.4:p.Ala1105Asp
ENST00000375954.1:c.1013C>A (ERCC5)	ENSP00000365121.1:p.Ala338Asp
ENST00000472247.1:n.474C>A (ERCC5)
ENST00000610537.4:c.3311C>A (ERCC5)	ENSP00000478667.1:p.Ala1104Asp
NM_000123.3:c.3314C>A , LRG_464t1:c.3314C>A (ERCC5)	NP_000114.2:p.Ala1105Asp
NM_001204425.1:c.4676C>A (BIVM-ERCC5)	NP_001191354.1:p.Ala1559Asp
NM_000123.4:c.3314C>A (ERCC5) MANE Select	NP_000114.3:p.Ala1105Asp
NM_001204425.2:c.4676C>A (BIVM-ERCC5)	NP_001191354.2:p.Ala1559Asp