Canonical Allele Identifier: CA591122
Gene: UBIAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2223749
ClinVar RCV Id: RCV004088554
dbSNP Id: rs759234615
gnomAD v2: 1-11333865-G-A
gnomAD v3: 1-11273808-G-A
gnomAD v4: 1-11273808-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273808G>A , CM000663.2:g.11273808G>A GRCh38
NC_000001.10:g.11333865G>A , CM000663.1:g.11333865G>A GRCh37
NC_000001.9:g.11256452G>A NCBI36
NG_009443.1:g.5611G>A
NG_009443.2:g.5611G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.277G>A MANE Select ENSP00000366006.5:p.Ala93Thr
ENST00000376804.2:c.277G>A ENSP00000366000.1:p.Ala93Thr
ENST00000376810.5:c.277G>A ENSP00000366006.5:p.Ala93Thr
NM_013319.2:c.277G>A NP_037451.1:p.Ala93Thr
XM_006710590.2:c.277G>A XP_006710653.1:p.Ala93Thr
XM_011541304.1:c.277G>A XP_011539606.1:p.Ala93Thr
XR_946616.1:n.611G>A
NM_001330349.1:c.277G>A NP_001317278.1:p.Ala93Thr
NM_001330350.1:c.277G>A NP_001317279.1:p.Ala93Thr
XR_946616.3:n.611G>A
NM_001330349.2:c.277G>A NP_001317278.1:p.Ala93Thr
NM_001330350.2:c.277G>A NP_001317279.1:p.Ala93Thr
NM_013319.3:c.277G>A MANE Select NP_037451.1:p.Ala93Thr