Canonical Allele Identifier: CA114578
Gene: UBIAD1 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'