Canonical Allele Identifier: CA388675127

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528014T>G (hg19) ; chr13:g.102875664T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875664T>G , CM000675.2:g.102875664T>G	GRCh38
NC_000013.10:g.103528014T>G , CM000675.1:g.103528014T>G	GRCh37
NC_000013.9:g.102326015T>G	NCBI36
NG_007146.1:g.34841T>G , LRG_464:g.34841T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4423T>G (ERCC5)
ENST00000682869.1:n.3971T>G (ERCC5)
ENST00000683246.1:n.4959T>G (ERCC5)
ENST00000683642.1:n.3552T>G (ERCC5)
ENST00000639132.1:c.3997T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1333Ala
ENST00000639435.1:c.4684T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1562Ala
ENST00000651002.1:c.*3083T>G (ERCC5)	ENSP00000498809.1:n.*3083T>G
ENST00000651055.1:n.3449T>G (ERCC5)
ENST00000651281.1:n.3690T>G (ERCC5)
ENST00000651387.1:n.2806T>G (ERCC5)
ENST00000651470.1:c.*494T>G (ERCC5)	ENSP00000498701.1:n.*494T>G
ENST00000652225.2:c.3322T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1108Ala
ENST00000652613.1:c.2818T>G (ERCC5)	ENSP00000498357.1:p.Ser940Ala
ENST00000355739.8:c.3322T>G (ERCC5)	ENSP00000347978.4:p.Ser1108Ala
ENST00000375954.1:c.1021T>G (ERCC5)	ENSP00000365121.1:p.Ser341Ala
ENST00000472247.1:n.482T>G (ERCC5)
ENST00000610537.4:c.3319T>G (ERCC5)	ENSP00000478667.1:p.Ser1107Ala
NM_000123.3:c.3322T>G , LRG_464t1:c.3322T>G (ERCC5)	NP_000114.2:p.Ser1108Ala
NM_001204425.1:c.4684T>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1562Ala
NM_000123.4:c.3322T>G (ERCC5) MANE Select	NP_000114.3:p.Ser1108Ala
NM_001204425.2:c.4684T>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1562Ala