Canonical Allele Identifier: CA388674807

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527865G>T (hg19) ; chr13:g.102875515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875515G>T , CM000675.2:g.102875515G>T	GRCh38
NC_000013.10:g.103527865G>T , CM000675.1:g.103527865G>T	GRCh37
NC_000013.9:g.102325866G>T	NCBI36
NG_007146.1:g.34692G>T , LRG_464:g.34692G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4274G>T (ERCC5)
ENST00000682869.1:n.3822G>T (ERCC5)
ENST00000683246.1:n.4810G>T (ERCC5)
ENST00000683642.1:n.3403G>T (ERCC5)
ENST00000639132.1:c.3848G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1283Ile
ENST00000639435.1:c.4535G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1512Ile
ENST00000651002.1:c.*2934G>T (ERCC5)	ENSP00000498809.1:n.*2934G>T
ENST00000651055.1:n.3300G>T (ERCC5)
ENST00000651281.1:n.3541G>T (ERCC5)
ENST00000651387.1:n.2657G>T (ERCC5)
ENST00000651470.1:c.*345G>T (ERCC5)	ENSP00000498701.1:n.*345G>T
ENST00000652225.2:c.3173G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Arg1058Ile
ENST00000652613.1:c.2669G>T (ERCC5)	ENSP00000498357.1:p.Arg890Ile
ENST00000355739.8:c.3173G>T (ERCC5)	ENSP00000347978.4:p.Arg1058Ile
ENST00000375954.1:c.872G>T (ERCC5)	ENSP00000365121.1:p.Arg291Ile
ENST00000472247.1:n.333G>T (ERCC5)
ENST00000610537.4:c.3170G>T (ERCC5)	ENSP00000478667.1:p.Arg1057Ile
NM_000123.3:c.3173G>T , LRG_464t1:c.3173G>T (ERCC5)	NP_000114.2:p.Arg1058Ile
NM_001204425.1:c.4535G>T (BIVM-ERCC5)	NP_001191354.1:p.Arg1512Ile
NM_000123.4:c.3173G>T (ERCC5) MANE Select	NP_000114.3:p.Arg1058Ile
NM_001204425.2:c.4535G>T (BIVM-ERCC5)	NP_001191354.2:p.Arg1512Ile