Canonical Allele Identifier: CA1153587721
Gene: UBIAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1651896339

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11274026dup , CM000663.2:g.11274026dup GRCh38
NC_000001.10:g.11334083dup , CM000663.1:g.11334083dup GRCh37
NC_000001.9:g.11256670dup NCBI36
NG_009443.1:g.5829dup
NG_009443.2:g.5829dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.495dup MANE Select ENSP00000366006.5:p.Gly166TrpfsTer?
ENST00000376804.2:c.495dup ENSP00000366000.1:p.Gly166TrpfsTer?
ENST00000376810.5:c.495dup ENSP00000366006.5:p.Gly166TrpfsTer?
ENST00000483738.1:c.93dup ENSP00000473453.1:p.Gly32TrpfsTer?
ENST00000486588.6:c.138dup ENSP00000473612.1:p.Gly47TrpfsTer?
NM_013319.2:c.495dup NP_037451.1:p.Gly166TrpfsTer?
XM_006710590.2:c.495dup XP_006710653.1:p.Gly166TrpfsTer?
XM_011541304.1:c.495dup XP_011539606.1:p.Gly166TrpfsTer?
XR_946616.1:n.829dup
NM_001330349.1:c.495dup NP_001317278.1:p.Gly166TrpfsTer?
NM_001330350.1:c.495dup NP_001317279.1:p.Gly166TrpfsTer?
XR_946616.3:n.829dup
NM_001330349.2:c.495dup NP_001317278.1:p.Gly166TrpfsTer?
NM_001330350.2:c.495dup NP_001317279.1:p.Gly166TrpfsTer?
NM_013319.3:c.495dup MANE Select NP_037451.1:p.Gly166TrpfsTer?