Canonical Allele Identifier: CA388675092

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528000A>C (hg19) ; chr13:g.102875650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875650A>C , CM000675.2:g.102875650A>C	GRCh38
NC_000013.10:g.103528000A>C , CM000675.1:g.103528000A>C	GRCh37
NC_000013.9:g.102326001A>C	NCBI36
NG_007146.1:g.34827A>C , LRG_464:g.34827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4409A>C (ERCC5)
ENST00000682869.1:n.3957A>C (ERCC5)
ENST00000683246.1:n.4945A>C (ERCC5)
ENST00000683642.1:n.3538A>C (ERCC5)
ENST00000639132.1:c.3983A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1328Ala
ENST00000639435.1:c.4670A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1557Ala
ENST00000651002.1:c.*3069A>C (ERCC5)	ENSP00000498809.1:n.*3069A>C
ENST00000651055.1:n.3435A>C (ERCC5)
ENST00000651281.1:n.3676A>C (ERCC5)
ENST00000651387.1:n.2792A>C (ERCC5)
ENST00000651470.1:c.*480A>C (ERCC5)	ENSP00000498701.1:n.*480A>C
ENST00000652225.2:c.3308A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1103Ala
ENST00000652613.1:c.2804A>C (ERCC5)	ENSP00000498357.1:p.Glu935Ala
ENST00000355739.8:c.3308A>C (ERCC5)	ENSP00000347978.4:p.Glu1103Ala
ENST00000375954.1:c.1007A>C (ERCC5)	ENSP00000365121.1:p.Glu336Ala
ENST00000472247.1:n.468A>C (ERCC5)
ENST00000610537.4:c.3305A>C (ERCC5)	ENSP00000478667.1:p.Glu1102Ala
NM_000123.3:c.3308A>C , LRG_464t1:c.3308A>C (ERCC5)	NP_000114.2:p.Glu1103Ala
NM_001204425.1:c.4670A>C (BIVM-ERCC5)	NP_001191354.1:p.Glu1557Ala
NM_000123.4:c.3308A>C (ERCC5) MANE Select	NP_000114.3:p.Glu1103Ala
NM_001204425.2:c.4670A>C (BIVM-ERCC5)	NP_001191354.2:p.Glu1557Ala