Canonical Allele Identifier: CA388675106

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528005G>T (hg19) ; chr13:g.102875655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875655G>T , CM000675.2:g.102875655G>T	GRCh38
NC_000013.10:g.103528005G>T , CM000675.1:g.103528005G>T	GRCh37
NC_000013.9:g.102326006G>T	NCBI36
NG_007146.1:g.34832G>T , LRG_464:g.34832G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4414G>T (ERCC5)
ENST00000682869.1:n.3962G>T (ERCC5)
ENST00000683246.1:n.4950G>T (ERCC5)
ENST00000683642.1:n.3543G>T (ERCC5)
ENST00000639132.1:c.3988G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1330Ser
ENST00000639435.1:c.4675G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1559Ser
ENST00000651002.1:c.*3074G>T (ERCC5)	ENSP00000498809.1:n.*3074G>T
ENST00000651055.1:n.3440G>T (ERCC5)
ENST00000651281.1:n.3681G>T (ERCC5)
ENST00000651387.1:n.2797G>T (ERCC5)
ENST00000651470.1:c.*485G>T (ERCC5)	ENSP00000498701.1:n.*485G>T
ENST00000652225.2:c.3313G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ala1105Ser
ENST00000652613.1:c.2809G>T (ERCC5)	ENSP00000498357.1:p.Ala937Ser
ENST00000355739.8:c.3313G>T (ERCC5)	ENSP00000347978.4:p.Ala1105Ser
ENST00000375954.1:c.1012G>T (ERCC5)	ENSP00000365121.1:p.Ala338Ser
ENST00000472247.1:n.473G>T (ERCC5)
ENST00000610537.4:c.3310G>T (ERCC5)	ENSP00000478667.1:p.Ala1104Ser
NM_000123.3:c.3313G>T , LRG_464t1:c.3313G>T (ERCC5)	NP_000114.2:p.Ala1105Ser
NM_001204425.1:c.4675G>T (BIVM-ERCC5)	NP_001191354.1:p.Ala1559Ser
NM_000123.4:c.3313G>T (ERCC5) MANE Select	NP_000114.3:p.Ala1105Ser
NM_001204425.2:c.4675G>T (BIVM-ERCC5)	NP_001191354.2:p.Ala1559Ser