Canonical Allele Identifier: CA591110

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 874963
• ClinVar RCV Id: RCV001098380
• dbSNP Id: rs201583978
• ExAC: 1:11333818 G / A
• gnomAD v2: 1-11333818-G-A
• gnomAD v3: 1-11273761-G-A
• gnomAD v4: 1-11273761-G-A
• MyVariant Identifiers: chr1:g.11333818G>A (hg19) ; chr1:g.11273761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273761G>A , CM000663.2:g.11273761G>A	GRCh38
NC_000001.10:g.11333818G>A , CM000663.1:g.11333818G>A	GRCh37
NC_000001.9:g.11256405G>A	NCBI36
NG_009443.1:g.5564G>A
NG_009443.2:g.5564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.230G>A MANE Select	ENSP00000366006.5:p.Gly77Asp
ENST00000376804.2:c.230G>A	ENSP00000366000.1:p.Gly77Asp
ENST00000376810.5:c.230G>A	ENSP00000366006.5:p.Gly77Asp
NM_013319.2:c.230G>A	NP_037451.1:p.Gly77Asp
XM_006710590.2:c.230G>A	XP_006710653.1:p.Gly77Asp
XM_011541304.1:c.230G>A	XP_011539606.1:p.Gly77Asp
XR_946616.1:n.564G>A
NM_001330349.1:c.230G>A	NP_001317278.1:p.Gly77Asp
NM_001330350.1:c.230G>A	NP_001317279.1:p.Gly77Asp
XR_946616.3:n.564G>A
NM_001330349.2:c.230G>A	NP_001317278.1:p.Gly77Asp
NM_001330350.2:c.230G>A	NP_001317279.1:p.Gly77Asp
NM_013319.3:c.230G>A MANE Select	NP_037451.1:p.Gly77Asp