Canonical Allele Identifier: CA388569236

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103508402T>G (hg19) ; chr13:g.102856052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856052T>G , CM000675.2:g.102856052T>G	GRCh38
NC_000013.10:g.103508402T>G , CM000675.1:g.103508402T>G	GRCh37
NC_000013.9:g.102306403T>G	NCBI36
NG_007146.1:g.15229T>G , LRG_464:g.15229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.709T>G (ERCC5)
ENST00000682869.1:n.1117T>G (ERCC5)
ENST00000683246.1:n.1245T>G (ERCC5)
ENST00000684184.1:n.1114T>G (ERCC5)
ENST00000638434.1:c.566T>G (BIVM-ERCC5)
ENST00000639132.1:c.1143T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser381Arg
ENST00000639435.1:c.1830T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser610Arg
ENST00000651002.1:c.*229T>G (ERCC5)	ENSP00000498809.1:n.*229T>G
ENST00000651055.1:n.597T>G (ERCC5)
ENST00000651281.1:n.836T>G (ERCC5)
ENST00000651470.1:c.468T>G (ERCC5)	ENSP00000498701.1:p.Ser156Arg
ENST00000652225.2:c.468T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser156Arg
ENST00000652613.1:c.-37T>G (ERCC5)	ENSP00000498357.1:n.-37T>G
ENST00000355739.8:c.468T>G (ERCC5)	ENSP00000347978.4:p.Ser156Arg
ENST00000535557.5:c.468T>G (ERCC5)	ENSP00000442117.1:p.Ser156Arg
ENST00000602836.1:c.1744T>G (BIVM-ERCC5)
ENST00000610537.4:c.468T>G (ERCC5)	ENSP00000478667.1:p.Ser156Arg
NM_000123.3:c.468T>G , LRG_464t1:c.468T>G (ERCC5)	NP_000114.2:p.Ser156Arg
NM_001204425.1:c.1830T>G (BIVM-ERCC5)	NP_001191354.1:p.Ser610Arg
NM_000123.4:c.468T>G (ERCC5) MANE Select	NP_000114.3:p.Ser156Arg
NM_001204425.2:c.1830T>G (BIVM-ERCC5)	NP_001191354.2:p.Ser610Arg