Canonical Allele Identifier: CA388569322

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1465103077
• gnomAD v4: 13-102856086-A-G
• MyVariant Identifiers: chr13:g.103508436A>G (hg19) ; chr13:g.102856086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856086A>G , CM000675.2:g.102856086A>G	GRCh38
NC_000013.10:g.103508436A>G , CM000675.1:g.103508436A>G	GRCh37
NC_000013.9:g.102306437A>G	NCBI36
NG_007146.1:g.15263A>G , LRG_464:g.15263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.743A>G (ERCC5)
ENST00000682869.1:n.1151A>G (ERCC5)
ENST00000683246.1:n.1279A>G (ERCC5)
ENST00000684184.1:n.1148A>G (ERCC5)
ENST00000638434.1:c.600A>G (BIVM-ERCC5)
ENST00000639132.1:c.1177A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Arg393Gly
ENST00000639435.1:c.1864A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Arg622Gly
ENST00000651002.1:c.*263A>G (ERCC5)	ENSP00000498809.1:n.*263A>G
ENST00000651055.1:n.631A>G (ERCC5)
ENST00000651281.1:n.870A>G (ERCC5)
ENST00000651470.1:c.502A>G (ERCC5)	ENSP00000498701.1:p.Arg168Gly
ENST00000652225.2:c.502A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Arg168Gly
ENST00000652613.1:c.-3A>G (ERCC5)	ENSP00000498357.1:n.-3A>G
ENST00000355739.8:c.502A>G (ERCC5)	ENSP00000347978.4:p.Arg168Gly
ENST00000535557.5:c.502A>G (ERCC5)	ENSP00000442117.1:p.Arg168Gly
ENST00000602836.1:c.1778A>G (BIVM-ERCC5)
ENST00000610537.4:c.502A>G (ERCC5)	ENSP00000478667.1:p.Arg168Gly
NM_000123.3:c.502A>G , LRG_464t1:c.502A>G (ERCC5)	NP_000114.2:p.Arg168Gly
NM_001204425.1:c.1864A>G (BIVM-ERCC5)	NP_001191354.1:p.Arg622Gly
NM_000123.4:c.502A>G (ERCC5) MANE Select	NP_000114.3:p.Arg168Gly
NM_001204425.2:c.1864A>G (BIVM-ERCC5)	NP_001191354.2:p.Arg622Gly