Canonical Allele Identifier: CA388673450

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525618G>T (hg19) ; chr13:g.102873268G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873268G>T , CM000675.2:g.102873268G>T	GRCh38
NC_000013.10:g.103525618G>T , CM000675.1:g.103525618G>T	GRCh37
NC_000013.9:g.102323619G>T	NCBI36
NG_007146.1:g.32445G>T , LRG_464:g.32445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3990G>T (ERCC5)
ENST00000682869.1:n.3538G>T (ERCC5)
ENST00000683246.1:n.4526G>T (ERCC5)
ENST00000683642.1:n.3119G>T (ERCC5)
ENST00000639132.1:c.3564G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Gln1188His
ENST00000639435.1:c.4251G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1417His
ENST00000651002.1:c.*2650G>T (ERCC5)	ENSP00000498809.1:n.*2650G>T
ENST00000651055.1:n.3016G>T (ERCC5)
ENST00000651281.1:n.3257G>T (ERCC5)
ENST00000651387.1:n.2373G>T (ERCC5)
ENST00000651470.1:c.*61G>T (ERCC5)	ENSP00000498701.1:n.*61G>T
ENST00000652225.2:c.2889G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Gln963His
ENST00000652613.1:c.2385G>T (ERCC5)	ENSP00000498357.1:p.Gln795His
ENST00000355739.8:c.2889G>T (ERCC5)	ENSP00000347978.4:p.Gln963His
ENST00000375954.1:c.588G>T (ERCC5)	ENSP00000365121.1:p.Gln196His
ENST00000610537.4:c.2886G>T (ERCC5)	ENSP00000478667.1:p.Gln962His
NM_000123.3:c.2889G>T , LRG_464t1:c.2889G>T (ERCC5)	NP_000114.2:p.Gln963His
NM_001204425.1:c.4251G>T (BIVM-ERCC5)	NP_001191354.1:p.Gln1417His
NM_000123.4:c.2889G>T (ERCC5) MANE Select	NP_000114.3:p.Gln963His
NM_001204425.2:c.4251G>T (BIVM-ERCC5)	NP_001191354.2:p.Gln1417His