Canonical Allele Identifier: CA388674905

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 1692189
• ClinVar RCV Id: RCV002258489
• dbSNP Id: rs1883189931
• MyVariant Identifiers: chr13:g.103527910A>G (hg19) ; chr13:g.102875560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875560A>G , CM000675.2:g.102875560A>G	GRCh38
NC_000013.10:g.103527910A>G , CM000675.1:g.103527910A>G	GRCh37
NC_000013.9:g.102325911A>G	NCBI36
NG_007146.1:g.34737A>G , LRG_464:g.34737A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4319A>G (ERCC5)
ENST00000682869.1:n.3867A>G (ERCC5)
ENST00000683246.1:n.4855A>G (ERCC5)
ENST00000683642.1:n.3448A>G (ERCC5)
ENST00000639132.1:c.3893A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1298Arg
ENST00000639435.1:c.4580A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1527Arg
ENST00000651002.1:c.*2979A>G (ERCC5)	ENSP00000498809.1:n.*2979A>G
ENST00000651055.1:n.3345A>G (ERCC5)
ENST00000651281.1:n.3586A>G (ERCC5)
ENST00000651387.1:n.2702A>G (ERCC5)
ENST00000651470.1:c.*390A>G (ERCC5)	ENSP00000498701.1:n.*390A>G
ENST00000652225.2:c.3218A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Lys1073Arg
ENST00000652613.1:c.2714A>G (ERCC5)	ENSP00000498357.1:p.Lys905Arg
ENST00000355739.8:c.3218A>G (ERCC5)	ENSP00000347978.4:p.Lys1073Arg
ENST00000375954.1:c.917A>G (ERCC5)	ENSP00000365121.1:p.Lys306Arg
ENST00000472247.1:n.378A>G (ERCC5)
ENST00000610537.4:c.3215A>G (ERCC5)	ENSP00000478667.1:p.Lys1072Arg
NM_000123.3:c.3218A>G , LRG_464t1:c.3218A>G (ERCC5)	NP_000114.2:p.Lys1073Arg
NM_001204425.1:c.4580A>G (BIVM-ERCC5)	NP_001191354.1:p.Lys1527Arg
NM_000123.4:c.3218A>G (ERCC5) MANE Select	NP_000114.3:p.Lys1073Arg
NM_001204425.2:c.4580A>G (BIVM-ERCC5)	NP_001191354.2:p.Lys1527Arg