Canonical Allele Identifier: CA388675114

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528009A>C (hg19) ; chr13:g.102875659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875659A>C , CM000675.2:g.102875659A>C	GRCh38
NC_000013.10:g.103528009A>C , CM000675.1:g.103528009A>C	GRCh37
NC_000013.9:g.102326010A>C	NCBI36
NG_007146.1:g.34836A>C , LRG_464:g.34836A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4418A>C (ERCC5)
ENST00000682869.1:n.3966A>C (ERCC5)
ENST00000683246.1:n.4954A>C (ERCC5)
ENST00000683642.1:n.3547A>C (ERCC5)
ENST00000639132.1:c.3992A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1331Ala
ENST00000639435.1:c.4679A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1560Ala
ENST00000651002.1:c.*3078A>C (ERCC5)	ENSP00000498809.1:n.*3078A>C
ENST00000651055.1:n.3444A>C (ERCC5)
ENST00000651281.1:n.3685A>C (ERCC5)
ENST00000651387.1:n.2801A>C (ERCC5)
ENST00000651470.1:c.*489A>C (ERCC5)	ENSP00000498701.1:n.*489A>C
ENST00000652225.2:c.3317A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1106Ala
ENST00000652613.1:c.2813A>C (ERCC5)	ENSP00000498357.1:p.Glu938Ala
ENST00000355739.8:c.3317A>C (ERCC5)	ENSP00000347978.4:p.Glu1106Ala
ENST00000375954.1:c.1016A>C (ERCC5)	ENSP00000365121.1:p.Glu339Ala
ENST00000472247.1:n.477A>C (ERCC5)
ENST00000610537.4:c.3314A>C (ERCC5)	ENSP00000478667.1:p.Glu1105Ala
NM_000123.3:c.3317A>C , LRG_464t1:c.3317A>C (ERCC5)	NP_000114.2:p.Glu1106Ala
NM_001204425.1:c.4679A>C (BIVM-ERCC5)	NP_001191354.1:p.Glu1560Ala
NM_000123.4:c.3317A>C (ERCC5) MANE Select	NP_000114.3:p.Glu1106Ala
NM_001204425.2:c.4679A>C (BIVM-ERCC5)	NP_001191354.2:p.Glu1560Ala