Canonical Allele Identifier: CA591115

Gene: UBIAD1

Linked Data

• dbSNP Id: rs774986281
• ExAC: 1:11333835 C / T
• gnomAD v2: 1-11333835-C-T
• gnomAD v4: 1-11273778-C-T
• MyVariant Identifiers: chr1:g.11333835C>T (hg19) ; chr1:g.11273778C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.247C>T MANE Select	ENSP00000366006.5:p.Leu83Phe
ENST00000376804.2:c.247C>T	ENSP00000366000.1:p.Leu83Phe
ENST00000376810.5:c.247C>T	ENSP00000366006.5:p.Leu83Phe
NM_013319.2:c.247C>T	NP_037451.1:p.Leu83Phe
XM_006710590.2:c.247C>T	XP_006710653.1:p.Leu83Phe
XM_011541304.1:c.247C>T	XP_011539606.1:p.Leu83Phe
XR_946616.1:n.581C>T
NM_001330349.1:c.247C>T	NP_001317278.1:p.Leu83Phe
NM_001330350.1:c.247C>T	NP_001317279.1:p.Leu83Phe
XR_946616.3:n.581C>T
NM_001330349.2:c.247C>T	NP_001317278.1:p.Leu83Phe
NM_001330350.2:c.247C>T	NP_001317279.1:p.Leu83Phe
NM_013319.3:c.247C>T MANE Select	NP_037451.1:p.Leu83Phe