Canonical Allele Identifier: CA416045165
Gene: UBIAD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11333858T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273801T>A , CM000663.2:g.11273801T>A GRCh38
NC_000001.10:g.11333858T>A , CM000663.1:g.11333858T>A GRCh37
NC_000001.9:g.11256445T>A NCBI36
NG_009443.1:g.5604T>A
NG_009443.2:g.5604T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.270T>A MANE Select ENSP00000366006.5:p.Ala90=
ENST00000376804.2:c.270T>A ENSP00000366000.1:p.Ala90=
ENST00000376810.5:c.270T>A ENSP00000366006.5:p.Ala90=
NM_013319.2:c.270T>A NP_037451.1:p.Ala90=
XM_006710590.2:c.270T>A XP_006710653.1:p.Ala90=
XM_011541304.1:c.270T>A XP_011539606.1:p.Ala90=
XR_946616.1:n.604T>A
NM_001330349.1:c.270T>A NP_001317278.1:p.Ala90=
NM_001330350.1:c.270T>A NP_001317279.1:p.Ala90=
XR_946616.3:n.604T>A
NM_001330349.2:c.270T>A NP_001317278.1:p.Ala90=
NM_001330350.2:c.270T>A NP_001317279.1:p.Ala90=
NM_013319.3:c.270T>A MANE Select NP_037451.1:p.Ala90=