Canonical Allele Identifier: CA591134

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 291823
• ClinVar RCV Id: RCV000289699
• dbSNP Id: rs748615089
• ExAC: 1:11333958 C / A
• gnomAD v2: 1-11333958-C-A
• gnomAD v3: 1-11273901-C-A
• gnomAD v4: 1-11273901-C-A
• MyVariant Identifiers: chr1:g.11333958C>A (hg19) ; chr1:g.11273901C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273901C>A , CM000663.2:g.11273901C>A	GRCh38
NC_000001.10:g.11333958C>A , CM000663.1:g.11333958C>A	GRCh37
NC_000001.9:g.11256545C>A	NCBI36
NG_009443.1:g.5704C>A
NG_009443.2:g.5704C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.370C>A MANE Select	ENSP00000366006.5:p.Arg124=
ENST00000376804.2:c.370C>A	ENSP00000366000.1:p.Arg124=
ENST00000376810.5:c.370C>A	ENSP00000366006.5:p.Arg124=
ENST00000486588.6:c.13C>A	ENSP00000473612.1:p.Arg5=
NM_013319.2:c.370C>A	NP_037451.1:p.Arg124=
XM_006710590.2:c.370C>A	XP_006710653.1:p.Arg124=
XM_011541304.1:c.370C>A	XP_011539606.1:p.Arg124=
XR_946616.1:n.704C>A
NM_001330349.1:c.370C>A	NP_001317278.1:p.Arg124=
NM_001330350.1:c.370C>A	NP_001317279.1:p.Arg124=
XR_946616.3:n.704C>A
NM_001330349.2:c.370C>A	NP_001317278.1:p.Arg124=
NM_001330350.2:c.370C>A	NP_001317279.1:p.Arg124=
NM_013319.3:c.370C>A MANE Select	NP_037451.1:p.Arg124=