Canonical Allele Identifier: CA338691104
Gene: UBIAD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273778C>A , CM000663.2:g.11273778C>A GRCh38
NC_000001.10:g.11333835C>A , CM000663.1:g.11333835C>A GRCh37
NC_000001.9:g.11256422C>A NCBI36
NG_009443.1:g.5581C>A
NG_009443.2:g.5581C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.247C>A MANE Select ENSP00000366006.5:p.Leu83Ile
ENST00000376804.2:c.247C>A ENSP00000366000.1:p.Leu83Ile
ENST00000376810.5:c.247C>A ENSP00000366006.5:p.Leu83Ile
NM_013319.2:c.247C>A NP_037451.1:p.Leu83Ile
XM_006710590.2:c.247C>A XP_006710653.1:p.Leu83Ile
XM_011541304.1:c.247C>A XP_011539606.1:p.Leu83Ile
XR_946616.1:n.581C>A
NM_001330349.1:c.247C>A NP_001317278.1:p.Leu83Ile
NM_001330350.1:c.247C>A NP_001317279.1:p.Leu83Ile
XR_946616.3:n.581C>A
NM_001330349.2:c.247C>A NP_001317278.1:p.Leu83Ile
NM_001330350.2:c.247C>A NP_001317279.1:p.Leu83Ile
NM_013319.3:c.247C>A MANE Select NP_037451.1:p.Leu83Ile