Canonical Allele Identifier: CA1153580458
Gene: UBIAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11287419C= , CM000663.2:g.11287419C= GRCh38
NC_000001.10:g.11347476C= , CM000663.1:g.11347476C= GRCh37
NC_000001.9:g.11270063C= NCBI36
NG_009443.1:g.19222C=
NG_009443.2:g.19222C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.*1288C= MANE Select ENSP00000366006.5:n.*1288C=
ENST00000376804.2:c.530-7454C= ENSP00000366000.1:n.530-7454C=
ENST00000376810.5:c.*1288C= ENSP00000366006.5:n.*1288C=
ENST00000483738.1:c.216+1687C= ENSP00000473453.1:n.216+1687C=
ENST00000486588.6:c.261+1687C= ENSP00000473612.1:n.261+1687C=
NM_013319.2:c.*1288C= NP_037451.1:n.*1288C=
XM_006710590.2:c.618+1687C= XP_006710653.1:n.618+1687C=
XM_011541304.1:c.530-7454C= XP_011539606.1:n.530-7454C=
XR_946616.1:n.952+1687C=
NM_001330349.1:c.618+1687C= NP_001317278.1:n.618+1687C=
NM_001330350.1:c.530-7454C= NP_001317279.1:n.530-7454C=
XR_946616.3:n.952+1687C=
NM_001330349.2:c.618+1687C= NP_001317278.1:n.618+1687C=
NM_001330350.2:c.530-7454C= NP_001317279.1:n.530-7454C=
NM_013319.3:c.*1288C= MANE Select NP_037451.1:n.*1288C=