Canonical Allele Identifier: CA114578

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 859
• ClinVar RCV Id: RCV000000907
• dbSNP Id: rs118203948
• MyVariant Identifiers: chr1:g.11334112C>T (hg19) ; chr1:g.11274055C>T (hg38)
• PubMed: PMID:15034782 ; PMID:17668063 ; PMID:18176953

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274055C>T , CM000663.2:g.11274055C>T	GRCh38
NC_000001.10:g.11334112C>T , CM000663.1:g.11334112C>T	GRCh37
NC_000001.9:g.11256699C>T	NCBI36
NG_009443.1:g.5858C>T
NG_009443.2:g.5858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.524C>T MANE Select	ENSP00000366006.5:p.Thr175Ile
ENST00000376804.2:c.524C>T	ENSP00000366000.1:p.Thr175Ile
ENST00000376810.5:c.524C>T	ENSP00000366006.5:p.Thr175Ile
ENST00000483738.1:c.122C>T	ENSP00000473453.1:p.Thr41Ile
ENST00000486588.6:c.167C>T	ENSP00000473612.1:p.Thr56Ile
NM_013319.2:c.524C>T	NP_037451.1:p.Thr175Ile
XM_006710590.2:c.524C>T	XP_006710653.1:p.Thr175Ile
XM_011541304.1:c.524C>T	XP_011539606.1:p.Thr175Ile
XR_946616.1:n.858C>T
NM_001330349.1:c.524C>T	NP_001317278.1:p.Thr175Ile
NM_001330350.1:c.524C>T	NP_001317279.1:p.Thr175Ile
XR_946616.3:n.858C>T
NM_001330349.2:c.524C>T	NP_001317278.1:p.Thr175Ile
NM_001330350.2:c.524C>T	NP_001317279.1:p.Thr175Ile
NM_013319.3:c.524C>T MANE Select	NP_037451.1:p.Thr175Ile