Canonical Allele Identifier: CA484983415

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527908A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875558A>G , CM000675.2:g.102875558A>G	GRCh38
NC_000013.10:g.103527908A>G , CM000675.1:g.103527908A>G	GRCh37
NC_000013.9:g.102325909A>G	NCBI36
NG_007146.1:g.34735A>G , LRG_464:g.34735A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4317A>G (ERCC5)
ENST00000682869.1:n.3865A>G (ERCC5)
ENST00000683246.1:n.4853A>G (ERCC5)
ENST00000683642.1:n.3446A>G (ERCC5)
ENST00000639132.1:c.3891A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1297=
ENST00000639435.1:c.4578A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1526=
ENST00000651002.1:c.*2977A>G (ERCC5)	ENSP00000498809.1:n.*2977A>G
ENST00000651055.1:n.3343A>G (ERCC5)
ENST00000651281.1:n.3584A>G (ERCC5)
ENST00000651387.1:n.2700A>G (ERCC5)
ENST00000651470.1:c.*388A>G (ERCC5)	ENSP00000498701.1:n.*388A>G
ENST00000652225.2:c.3216A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Arg1072=
ENST00000652613.1:c.2712A>G (ERCC5)	ENSP00000498357.1:p.Arg904=
ENST00000355739.8:c.3216A>G (ERCC5)	ENSP00000347978.4:p.Arg1072=
ENST00000375954.1:c.915A>G (ERCC5)	ENSP00000365121.1:p.Arg305=
ENST00000472247.1:n.376A>G (ERCC5)
ENST00000610537.4:c.3213A>G (ERCC5)	ENSP00000478667.1:p.Arg1071=
NM_000123.3:c.3216A>G , LRG_464t1:c.3216A>G (ERCC5)	NP_000114.2:p.Arg1072=
NM_001204425.1:c.4578A>G (BIVM-ERCC5)	NP_001191354.1:p.Arg1526=
NM_000123.4:c.3216A>G (ERCC5) MANE Select	NP_000114.3:p.Arg1072=
NM_001204425.2:c.4578A>G (BIVM-ERCC5)	NP_001191354.2:p.Arg1526=