Canonical Allele Identifier: CA484983598

Gene: ERCC5 BIVM-ERCC5

Linked Data

• COSMIC: COSM3417360
• MyVariant Identifiers: chr13:g.103527941A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875591A>G , CM000675.2:g.102875591A>G	GRCh38
NC_000013.10:g.103527941A>G , CM000675.1:g.103527941A>G	GRCh37
NC_000013.9:g.102325942A>G	NCBI36
NG_007146.1:g.34768A>G , LRG_464:g.34768A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4350A>G (ERCC5)
ENST00000682869.1:n.3898A>G (ERCC5)
ENST00000683246.1:n.4886A>G (ERCC5)
ENST00000683642.1:n.3479A>G (ERCC5)
ENST00000639132.1:c.3924A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1308=
ENST00000639435.1:c.4611A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1537=
ENST00000651002.1:c.*3010A>G (ERCC5)	ENSP00000498809.1:n.*3010A>G
ENST00000651055.1:n.3376A>G (ERCC5)
ENST00000651281.1:n.3617A>G (ERCC5)
ENST00000651387.1:n.2733A>G (ERCC5)
ENST00000651470.1:c.*421A>G (ERCC5)	ENSP00000498701.1:n.*421A>G
ENST00000652225.2:c.3249A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr1083=
ENST00000652613.1:c.2745A>G (ERCC5)	ENSP00000498357.1:p.Thr915=
ENST00000355739.8:c.3249A>G (ERCC5)	ENSP00000347978.4:p.Thr1083=
ENST00000375954.1:c.948A>G (ERCC5)	ENSP00000365121.1:p.Thr316=
ENST00000472247.1:n.409A>G (ERCC5)
ENST00000610537.4:c.3246A>G (ERCC5)	ENSP00000478667.1:p.Thr1082=
NM_000123.3:c.3249A>G , LRG_464t1:c.3249A>G (ERCC5)	NP_000114.2:p.Thr1083=
NM_001204425.1:c.4611A>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1537=
NM_000123.4:c.3249A>G (ERCC5) MANE Select	NP_000114.3:p.Thr1083=
NM_001204425.2:c.4611A>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1537=