Canonical Allele Identifier: CA484983678

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875624-A-G
• MyVariant Identifiers: chr13:g.103527974A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875624A>G , CM000675.2:g.102875624A>G	GRCh38
NC_000013.10:g.103527974A>G , CM000675.1:g.103527974A>G	GRCh37
NC_000013.9:g.102325975A>G	NCBI36
NG_007146.1:g.34801A>G , LRG_464:g.34801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4383A>G (ERCC5)
ENST00000682869.1:n.3931A>G (ERCC5)
ENST00000683246.1:n.4919A>G (ERCC5)
ENST00000683642.1:n.3512A>G (ERCC5)
ENST00000639132.1:c.3957A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1319=
ENST00000639435.1:c.4644A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1548=
ENST00000651002.1:c.*3043A>G (ERCC5)	ENSP00000498809.1:n.*3043A>G
ENST00000651055.1:n.3409A>G (ERCC5)
ENST00000651281.1:n.3650A>G (ERCC5)
ENST00000651387.1:n.2766A>G (ERCC5)
ENST00000651470.1:c.*454A>G (ERCC5)	ENSP00000498701.1:n.*454A>G
ENST00000652225.2:c.3282A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1094=
ENST00000652613.1:c.2778A>G (ERCC5)	ENSP00000498357.1:p.Ser926=
ENST00000355739.8:c.3282A>G (ERCC5)	ENSP00000347978.4:p.Ser1094=
ENST00000375954.1:c.981A>G (ERCC5)	ENSP00000365121.1:p.Ser327=
ENST00000472247.1:n.442A>G (ERCC5)
ENST00000610537.4:c.3279A>G (ERCC5)	ENSP00000478667.1:p.Ser1093=
NM_000123.3:c.3282A>G , LRG_464t1:c.3282A>G (ERCC5)	NP_000114.2:p.Ser1094=
NM_001204425.1:c.4644A>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1548=
NM_000123.4:c.3282A>G (ERCC5) MANE Select	NP_000114.3:p.Ser1094=
NM_001204425.2:c.4644A>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1548=