Canonical Allele Identifier: CA388576320

Gene: ERCC5 BIVM-ERCC5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2621T>C (ERCC5)
ENST00000682869.1:n.3029T>C (ERCC5)
ENST00000683246.1:n.3157T>C (ERCC5)
ENST00000639132.1:c.3055T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1019Arg
ENST00000639435.1:c.3742T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1248Arg
ENST00000651002.1:c.*2141T>C (ERCC5)	ENSP00000498809.1:n.*2141T>C
ENST00000651055.1:n.2509T>C (ERCC5)
ENST00000651281.1:n.2748T>C (ERCC5)
ENST00000651387.1:n.1864T>C (ERCC5)
ENST00000651470.1:c.2380T>C (ERCC5)	ENSP00000498701.1:p.Cys794Arg
ENST00000652225.2:c.2380T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Cys794Arg
ENST00000652613.1:c.1876T>C (ERCC5)	ENSP00000498357.1:p.Cys626Arg
ENST00000355739.8:c.2380T>C (ERCC5)	ENSP00000347978.4:p.Cys794Arg
ENST00000375954.1:c.79T>C (ERCC5)	ENSP00000365121.1:p.Cys27Arg
ENST00000481099.1:n.500T>C (ERCC5)
ENST00000602836.1:c.3656T>C (BIVM-ERCC5)
ENST00000610537.4:c.2380T>C (ERCC5)	ENSP00000478667.1:p.Cys794Arg
NM_000123.3:c.2380T>C , LRG_464t1:c.2380T>C (ERCC5)	NP_000114.2:p.Cys794Arg
NM_001204425.1:c.3742T>C (BIVM-ERCC5)	NP_001191354.1:p.Cys1248Arg
NM_000123.4:c.2380T>C (ERCC5) MANE Select	NP_000114.3:p.Cys794Arg
NM_001204425.2:c.3742T>C (BIVM-ERCC5)	NP_001191354.2:p.Cys1248Arg