Canonical Allele Identifier: CA388569253

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103508409G>C (hg19) ; chr13:g.102856059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856059G>C , CM000675.2:g.102856059G>C	GRCh38
NC_000013.10:g.103508409G>C , CM000675.1:g.103508409G>C	GRCh37
NC_000013.9:g.102306410G>C	NCBI36
NG_007146.1:g.15236G>C , LRG_464:g.15236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.716G>C (ERCC5)
ENST00000682869.1:n.1124G>C (ERCC5)
ENST00000683246.1:n.1252G>C (ERCC5)
ENST00000684184.1:n.1121G>C (ERCC5)
ENST00000638434.1:c.573G>C (BIVM-ERCC5)
ENST00000639132.1:c.1150G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu384Gln
ENST00000639435.1:c.1837G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu613Gln
ENST00000651002.1:c.*236G>C (ERCC5)	ENSP00000498809.1:n.*236G>C
ENST00000651055.1:n.604G>C (ERCC5)
ENST00000651281.1:n.843G>C (ERCC5)
ENST00000651470.1:c.475G>C (ERCC5)	ENSP00000498701.1:p.Glu159Gln
ENST00000652225.2:c.475G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu159Gln
ENST00000652613.1:c.-30G>C (ERCC5)	ENSP00000498357.1:n.-30G>C
ENST00000355739.8:c.475G>C (ERCC5)	ENSP00000347978.4:p.Glu159Gln
ENST00000535557.5:c.475G>C (ERCC5)	ENSP00000442117.1:p.Glu159Gln
ENST00000602836.1:c.1751G>C (BIVM-ERCC5)
ENST00000610537.4:c.475G>C (ERCC5)	ENSP00000478667.1:p.Glu159Gln
NM_000123.3:c.475G>C , LRG_464t1:c.475G>C (ERCC5)	NP_000114.2:p.Glu159Gln
NM_001204425.1:c.1837G>C (BIVM-ERCC5)	NP_001191354.1:p.Glu613Gln
NM_000123.4:c.475G>C (ERCC5) MANE Select	NP_000114.3:p.Glu159Gln
NM_001204425.2:c.1837G>C (BIVM-ERCC5)	NP_001191354.2:p.Glu613Gln