Canonical Allele Identifier: CA2643253699
Gene: UBIAD1 HGNC NCBI

Linked Data

gnomAD v4: 1-11274164-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11274164T>A , CM000663.2:g.11274164T>A GRCh38
NC_000001.10:g.11334221T>A , CM000663.1:g.11334221T>A GRCh37
NC_000001.9:g.11256808T>A NCBI36
NG_009443.1:g.5967T>A
NG_009443.2:g.5967T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.529+104T>A MANE Select ENSP00000366006.5:n.529+104T>A
ENST00000376804.2:c.529+104T>A ENSP00000366000.1:n.529+104T>A
ENST00000376810.5:c.529+104T>A ENSP00000366006.5:n.529+104T>A
ENST00000483738.1:c.127+104T>A ENSP00000473453.1:n.127+104T>A
ENST00000486588.6:c.172+104T>A ENSP00000473612.1:n.172+104T>A
NM_013319.2:c.529+104T>A NP_037451.1:n.529+104T>A
XM_006710590.2:c.529+104T>A XP_006710653.1:n.529+104T>A
XM_011541304.1:c.529+104T>A XP_011539606.1:n.529+104T>A
XR_946616.1:n.863+104T>A
NM_001330349.1:c.529+104T>A NP_001317278.1:n.529+104T>A
NM_001330350.1:c.529+104T>A NP_001317279.1:n.529+104T>A
XR_946616.3:n.863+104T>A
NM_001330349.2:c.529+104T>A NP_001317278.1:n.529+104T>A
NM_001330350.2:c.529+104T>A NP_001317279.1:n.529+104T>A
NM_013319.3:c.529+104T>A MANE Select NP_037451.1:n.529+104T>A