Canonical Allele Identifier: CA388569279

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103508419A>G (hg19) ; chr13:g.102856069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856069A>G , CM000675.2:g.102856069A>G	GRCh38
NC_000013.10:g.103508419A>G , CM000675.1:g.103508419A>G	GRCh37
NC_000013.9:g.102306420A>G	NCBI36
NG_007146.1:g.15246A>G , LRG_464:g.15246A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.726A>G (ERCC5)
ENST00000682869.1:n.1134A>G (ERCC5)
ENST00000683246.1:n.1262A>G (ERCC5)
ENST00000684184.1:n.1131A>G (ERCC5)
ENST00000638434.1:c.583A>G (BIVM-ERCC5)
ENST00000639132.1:c.1160A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Glu387Gly
ENST00000639435.1:c.1847A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Glu616Gly
ENST00000651002.1:c.*246A>G (ERCC5)	ENSP00000498809.1:n.*246A>G
ENST00000651055.1:n.614A>G (ERCC5)
ENST00000651281.1:n.853A>G (ERCC5)
ENST00000651470.1:c.485A>G (ERCC5)	ENSP00000498701.1:p.Glu162Gly
ENST00000652225.2:c.485A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Glu162Gly
ENST00000652613.1:c.-20A>G (ERCC5)	ENSP00000498357.1:n.-20A>G
ENST00000355739.8:c.485A>G (ERCC5)	ENSP00000347978.4:p.Glu162Gly
ENST00000535557.5:c.485A>G (ERCC5)	ENSP00000442117.1:p.Glu162Gly
ENST00000602836.1:c.1761A>G (BIVM-ERCC5)
ENST00000610537.4:c.485A>G (ERCC5)	ENSP00000478667.1:p.Glu162Gly
NM_000123.3:c.485A>G , LRG_464t1:c.485A>G (ERCC5)	NP_000114.2:p.Glu162Gly
NM_001204425.1:c.1847A>G (BIVM-ERCC5)	NP_001191354.1:p.Glu616Gly
NM_000123.4:c.485A>G (ERCC5) MANE Select	NP_000114.3:p.Glu162Gly
NM_001204425.2:c.1847A>G (BIVM-ERCC5)	NP_001191354.2:p.Glu616Gly