Canonical Allele Identifier: CA1143847972
Gene: UBIAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11287396T= , CM000663.2:g.11287396T= GRCh38
NC_000001.10:g.11347453T= , CM000663.1:g.11347453T= GRCh37
NC_000001.9:g.11270040T= NCBI36
NG_009443.1:g.19199T=
NG_009443.2:g.19199T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.*1265T= MANE Select ENSP00000366006.5:n.*1265T=
ENST00000376804.2:c.530-7477T= ENSP00000366000.1:n.530-7477T=
ENST00000376810.5:c.*1265T= ENSP00000366006.5:n.*1265T=
ENST00000483738.1:c.216+1664T= ENSP00000473453.1:n.216+1664T=
ENST00000486588.6:c.261+1664T= ENSP00000473612.1:n.261+1664T=
NM_013319.2:c.*1265T= NP_037451.1:n.*1265T=
XM_006710590.2:c.618+1664T= XP_006710653.1:n.618+1664T=
XM_011541304.1:c.530-7477T= XP_011539606.1:n.530-7477T=
XR_946616.1:n.952+1664T=
NM_001330349.1:c.618+1664T= NP_001317278.1:n.618+1664T=
NM_001330350.1:c.530-7477T= NP_001317279.1:n.530-7477T=
XR_946616.3:n.952+1664T=
NM_001330349.2:c.618+1664T= NP_001317278.1:n.618+1664T=
NM_001330350.2:c.530-7477T= NP_001317279.1:n.530-7477T=
NM_013319.3:c.*1265T= MANE Select NP_037451.1:n.*1265T=