Canonical Allele Identifier: CA591132

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 2072763
• ClinVar RCV Id: RCV002967352
• dbSNP Id: rs35990325
• ExAC: 1:11333939 T / C
• gnomAD v2: 1-11333939-T-C
• gnomAD v3: 1-11273882-T-C
• gnomAD v4: 1-11273882-T-C
• MyVariant Identifiers: chr1:g.11333939T>C (hg19) ; chr1:g.11273882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273882T>C , CM000663.2:g.11273882T>C	GRCh38
NC_000001.10:g.11333939T>C , CM000663.1:g.11333939T>C	GRCh37
NC_000001.9:g.11256526T>C	NCBI36
NG_009443.1:g.5685T>C
NG_009443.2:g.5685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.351T>C MANE Select	ENSP00000366006.5:p.Asp117=
ENST00000376804.2:c.351T>C	ENSP00000366000.1:p.Asp117=
ENST00000376810.5:c.351T>C	ENSP00000366006.5:p.Asp117=
NM_013319.2:c.351T>C	NP_037451.1:p.Asp117=
XM_006710590.2:c.351T>C	XP_006710653.1:p.Asp117=
XM_011541304.1:c.351T>C	XP_011539606.1:p.Asp117=
XR_946616.1:n.685T>C
NM_001330349.1:c.351T>C	NP_001317278.1:p.Asp117=
NM_001330350.1:c.351T>C	NP_001317279.1:p.Asp117=
XR_946616.3:n.685T>C
NM_001330349.2:c.351T>C	NP_001317278.1:p.Asp117=
NM_001330350.2:c.351T>C	NP_001317279.1:p.Asp117=
NM_013319.3:c.351T>C MANE Select	NP_037451.1:p.Asp117=