Canonical Allele Identifier: CA388673456

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525620G>T (hg19) ; chr13:g.102873270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873270G>T , CM000675.2:g.102873270G>T	GRCh38
NC_000013.10:g.103525620G>T , CM000675.1:g.103525620G>T	GRCh37
NC_000013.9:g.102323621G>T	NCBI36
NG_007146.1:g.32447G>T , LRG_464:g.32447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3992G>T (ERCC5)
ENST00000682869.1:n.3540G>T (ERCC5)
ENST00000683246.1:n.4528G>T (ERCC5)
ENST00000683642.1:n.3121G>T (ERCC5)
ENST00000639132.1:c.3566G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1189Leu
ENST00000639435.1:c.4253G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1418Leu
ENST00000651002.1:c.*2652G>T (ERCC5)	ENSP00000498809.1:n.*2652G>T
ENST00000651055.1:n.3018G>T (ERCC5)
ENST00000651281.1:n.3259G>T (ERCC5)
ENST00000651387.1:n.2375G>T (ERCC5)
ENST00000651470.1:c.*63G>T (ERCC5)	ENSP00000498701.1:n.*63G>T
ENST00000652225.2:c.2891G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Arg964Leu
ENST00000652613.1:c.2387G>T (ERCC5)	ENSP00000498357.1:p.Arg796Leu
ENST00000355739.8:c.2891G>T (ERCC5)	ENSP00000347978.4:p.Arg964Leu
ENST00000375954.1:c.590G>T (ERCC5)	ENSP00000365121.1:p.Arg197Leu
ENST00000610537.4:c.2888G>T (ERCC5)	ENSP00000478667.1:p.Arg963Leu
NM_000123.3:c.2891G>T , LRG_464t1:c.2891G>T (ERCC5)	NP_000114.2:p.Arg964Leu
NM_001204425.1:c.4253G>T (BIVM-ERCC5)	NP_001191354.1:p.Arg1418Leu
NM_000123.4:c.2891G>T (ERCC5) MANE Select	NP_000114.3:p.Arg964Leu
NM_001204425.2:c.4253G>T (BIVM-ERCC5)	NP_001191354.2:p.Arg1418Leu