Canonical Allele Identifier: CA10607380

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 291826
• ClinVar RCV Id: RCV000293265
• dbSNP Id: rs886045058
• MyVariant Identifiers: chr1:g.11334082T>G (hg19) ; chr1:g.11274025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274025T>G , CM000663.2:g.11274025T>G	GRCh38
NC_000001.10:g.11334082T>G , CM000663.1:g.11334082T>G	GRCh37
NC_000001.9:g.11256669T>G	NCBI36
NG_009443.1:g.5828T>G
NG_009443.2:g.5828T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.494T>G MANE Select	ENSP00000366006.5:p.Phe165Cys
ENST00000376804.2:c.494T>G	ENSP00000366000.1:p.Phe165Cys
ENST00000376810.5:c.494T>G	ENSP00000366006.5:p.Phe165Cys
ENST00000483738.1:c.92T>G	ENSP00000473453.1:p.Phe31Cys
ENST00000486588.6:c.137T>G	ENSP00000473612.1:p.Phe46Cys
NM_013319.2:c.494T>G	NP_037451.1:p.Phe165Cys
XM_006710590.2:c.494T>G	XP_006710653.1:p.Phe165Cys
XM_011541304.1:c.494T>G	XP_011539606.1:p.Phe165Cys
XR_946616.1:n.828T>G
NM_001330349.1:c.494T>G	NP_001317278.1:p.Phe165Cys
NM_001330350.1:c.494T>G	NP_001317279.1:p.Phe165Cys
XR_946616.3:n.828T>G
NM_001330349.2:c.494T>G	NP_001317278.1:p.Phe165Cys
NM_001330350.2:c.494T>G	NP_001317279.1:p.Phe165Cys
NM_013319.3:c.494T>G MANE Select	NP_037451.1:p.Phe165Cys