Canonical Allele Identifier: CA7041190

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 1692195
• ClinVar RCV Id: RCV002257090
• dbSNP Id: rs754604389
• ExAC: 13:103508453 A / G
• gnomAD v2: 13-103508453-A-G
• gnomAD v3: 13-102856103-A-G
• gnomAD v4: 13-102856103-A-G
• MyVariant Identifiers: chr13:g.103508453A>G (hg19) ; chr13:g.102856103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856103A>G , CM000675.2:g.102856103A>G	GRCh38
NC_000013.10:g.103508453A>G , CM000675.1:g.103508453A>G	GRCh37
NC_000013.9:g.102306454A>G	NCBI36
NG_007146.1:g.15280A>G , LRG_464:g.15280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.760A>G (ERCC5)
ENST00000682869.1:n.1168A>G (ERCC5)
ENST00000683246.1:n.1296A>G (ERCC5)
ENST00000684184.1:n.1165A>G (ERCC5)
ENST00000639132.1:c.1194A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Gln398=
ENST00000639435.1:c.1881A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Gln627=
ENST00000651002.1:c.*280A>G (ERCC5)	ENSP00000498809.1:n.*280A>G
ENST00000651055.1:n.648A>G (ERCC5)
ENST00000651281.1:n.887A>G (ERCC5)
ENST00000651470.1:c.519A>G (ERCC5)	ENSP00000498701.1:p.Gln173=
ENST00000652225.2:c.519A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Gln173=
ENST00000652613.1:c.15A>G (ERCC5)	ENSP00000498357.1:p.Gln5=
ENST00000355739.8:c.519A>G (ERCC5)	ENSP00000347978.4:p.Gln173=
ENST00000535557.5:c.519A>G (ERCC5)	ENSP00000442117.1:p.Gln173=
ENST00000602836.1:c.1795A>G (BIVM-ERCC5)
ENST00000610537.4:c.519A>G (ERCC5)	ENSP00000478667.1:p.Gln173=
NM_000123.3:c.519A>G , LRG_464t1:c.519A>G (ERCC5)	NP_000114.2:p.Gln173=
NM_001204425.1:c.1881A>G (BIVM-ERCC5)	NP_001191354.1:p.Gln627=
NM_000123.4:c.519A>G (ERCC5) MANE Select	NP_000114.3:p.Gln173=
NM_001204425.2:c.1881A>G (BIVM-ERCC5)	NP_001191354.2:p.Gln627=