Canonical Allele Identifier: CA591108

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 291821
• ClinVar RCV Id: RCV000329450 ; RCV002519369
• dbSNP Id: rs114000606
• ExAC: 1:11333812 C / T
• gnomAD v2: 1-11333812-C-T
• gnomAD v3: 1-11273755-C-T
• gnomAD v4: 1-11273755-C-T
• MyVariant Identifiers: chr1:g.11333812C>T (hg19) ; chr1:g.11273755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273755C>T , CM000663.2:g.11273755C>T	GRCh38
NC_000001.10:g.11333812C>T , CM000663.1:g.11333812C>T	GRCh37
NC_000001.9:g.11256399C>T	NCBI36
NG_009443.1:g.5558C>T
NG_009443.2:g.5558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.224C>T MANE Select	ENSP00000366006.5:p.Ser75Phe
ENST00000376804.2:c.224C>T	ENSP00000366000.1:p.Ser75Phe
ENST00000376810.5:c.224C>T	ENSP00000366006.5:p.Ser75Phe
NM_013319.2:c.224C>T	NP_037451.1:p.Ser75Phe
XM_006710590.2:c.224C>T	XP_006710653.1:p.Ser75Phe
XM_011541304.1:c.224C>T	XP_011539606.1:p.Ser75Phe
XR_946616.1:n.558C>T
NM_001330349.1:c.224C>T	NP_001317278.1:p.Ser75Phe
NM_001330350.1:c.224C>T	NP_001317279.1:p.Ser75Phe
XR_946616.3:n.558C>T
NM_001330349.2:c.224C>T	NP_001317278.1:p.Ser75Phe
NM_001330350.2:c.224C>T	NP_001317279.1:p.Ser75Phe
NM_013319.3:c.224C>T MANE Select	NP_037451.1:p.Ser75Phe