Canonical Allele Identifier: CA388576321

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103519042T>G (hg19) ; chr13:g.102866692T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866692T>G , CM000675.2:g.102866692T>G	GRCh38
NC_000013.10:g.103519042T>G , CM000675.1:g.103519042T>G	GRCh37
NC_000013.9:g.102317043T>G	NCBI36
NG_007146.1:g.25869T>G , LRG_464:g.25869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2621T>G (ERCC5)
ENST00000682869.1:n.3029T>G (ERCC5)
ENST00000683246.1:n.3157T>G (ERCC5)
ENST00000639132.1:c.3055T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1019Gly
ENST00000639435.1:c.3742T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1248Gly
ENST00000651002.1:c.*2141T>G (ERCC5)	ENSP00000498809.1:n.*2141T>G
ENST00000651055.1:n.2509T>G (ERCC5)
ENST00000651281.1:n.2748T>G (ERCC5)
ENST00000651387.1:n.1864T>G (ERCC5)
ENST00000651470.1:c.2380T>G (ERCC5)	ENSP00000498701.1:p.Cys794Gly
ENST00000652225.2:c.2380T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Cys794Gly
ENST00000652613.1:c.1876T>G (ERCC5)	ENSP00000498357.1:p.Cys626Gly
ENST00000355739.8:c.2380T>G (ERCC5)	ENSP00000347978.4:p.Cys794Gly
ENST00000375954.1:c.79T>G (ERCC5)	ENSP00000365121.1:p.Cys27Gly
ENST00000481099.1:n.500T>G (ERCC5)
ENST00000602836.1:c.3656T>G (BIVM-ERCC5)
ENST00000610537.4:c.2380T>G (ERCC5)	ENSP00000478667.1:p.Cys794Gly
NM_000123.3:c.2380T>G , LRG_464t1:c.2380T>G (ERCC5)	NP_000114.2:p.Cys794Gly
NM_001204425.1:c.3742T>G (BIVM-ERCC5)	NP_001191354.1:p.Cys1248Gly
NM_000123.4:c.2380T>G (ERCC5) MANE Select	NP_000114.3:p.Cys794Gly
NM_001204425.2:c.3742T>G (BIVM-ERCC5)	NP_001191354.2:p.Cys1248Gly