Canonical Allele Identifier: CA388674975

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527943G>T (hg19) ; chr13:g.102875593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875593G>T , CM000675.2:g.102875593G>T	GRCh38
NC_000013.10:g.103527943G>T , CM000675.1:g.103527943G>T	GRCh37
NC_000013.9:g.102325944G>T	NCBI36
NG_007146.1:g.34770G>T , LRG_464:g.34770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4352G>T (ERCC5)
ENST00000682869.1:n.3900G>T (ERCC5)
ENST00000683246.1:n.4888G>T (ERCC5)
ENST00000683642.1:n.3481G>T (ERCC5)
ENST00000639132.1:c.3926G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1309Phe
ENST00000639435.1:c.4613G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1538Phe
ENST00000651002.1:c.*3012G>T (ERCC5)	ENSP00000498809.1:n.*3012G>T
ENST00000651055.1:n.3378G>T (ERCC5)
ENST00000651281.1:n.3619G>T (ERCC5)
ENST00000651387.1:n.2735G>T (ERCC5)
ENST00000651470.1:c.*423G>T (ERCC5)	ENSP00000498701.1:n.*423G>T
ENST00000652225.2:c.3251G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Cys1084Phe
ENST00000652613.1:c.2747G>T (ERCC5)	ENSP00000498357.1:p.Cys916Phe
ENST00000355739.8:c.3251G>T (ERCC5)	ENSP00000347978.4:p.Cys1084Phe
ENST00000375954.1:c.950G>T (ERCC5)	ENSP00000365121.1:p.Cys317Phe
ENST00000472247.1:n.411G>T (ERCC5)
ENST00000610537.4:c.3248G>T (ERCC5)	ENSP00000478667.1:p.Cys1083Phe
NM_000123.3:c.3251G>T , LRG_464t1:c.3251G>T (ERCC5)	NP_000114.2:p.Cys1084Phe
NM_001204425.1:c.4613G>T (BIVM-ERCC5)	NP_001191354.1:p.Cys1538Phe
NM_000123.4:c.3251G>T (ERCC5) MANE Select	NP_000114.3:p.Cys1084Phe
NM_001204425.2:c.4613G>T (BIVM-ERCC5)	NP_001191354.2:p.Cys1538Phe