Canonical Allele Identifier: CA1140613120
Gene: UBIAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11287341C= , CM000663.2:g.11287341C= GRCh38
NC_000001.10:g.11347398C= , CM000663.1:g.11347398C= GRCh37
NC_000001.9:g.11269985C= NCBI36
NG_009443.1:g.19144C=
NG_009443.2:g.19144C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.*1210C= MANE Select ENSP00000366006.5:n.*1210C=
ENST00000376804.2:c.530-7532C= ENSP00000366000.1:n.530-7532C=
ENST00000376810.5:c.*1210C= ENSP00000366006.5:n.*1210C=
ENST00000483738.1:c.216+1609C= ENSP00000473453.1:n.216+1609C=
ENST00000486588.6:c.261+1609C= ENSP00000473612.1:n.261+1609C=
NM_013319.2:c.*1210C= NP_037451.1:n.*1210C=
XM_006710590.2:c.618+1609C= XP_006710653.1:n.618+1609C=
XM_011541304.1:c.530-7532C= XP_011539606.1:n.530-7532C=
XR_946616.1:n.952+1609C=
NM_001330349.1:c.618+1609C= NP_001317278.1:n.618+1609C=
NM_001330350.1:c.530-7532C= NP_001317279.1:n.530-7532C=
XR_946616.3:n.952+1609C=
NM_001330349.2:c.618+1609C= NP_001317278.1:n.618+1609C=
NM_001330350.2:c.530-7532C= NP_001317279.1:n.530-7532C=
NM_013319.3:c.*1210C= MANE Select NP_037451.1:n.*1210C=