Canonical Allele Identifier: CA10607335

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 291886
• ClinVar RCV Id: RCV000294531
• dbSNP Id: rs3765906
• gnomAD v2: 1-11347092-T-C
• gnomAD v3: 1-11287035-T-C
• gnomAD v4: 1-11287035-T-C
• MyVariant Identifiers: chr1:g.11347092T>C (hg19) ; chr1:g.11287035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287035T>C , CM000663.2:g.11287035T>C	GRCh38
NC_000001.10:g.11347092T>C , CM000663.1:g.11347092T>C	GRCh37
NC_000001.9:g.11269679T>C	NCBI36
NG_009443.1:g.18838T>C
NG_009443.2:g.18838T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.*904T>C MANE Select	ENSP00000366006.5:n.*904T>C
ENST00000376804.2:c.530-7838T>C	ENSP00000366000.1:n.530-7838T>C
ENST00000376810.5:c.*904T>C	ENSP00000366006.5:n.*904T>C
ENST00000483738.1:c.216+1303T>C	ENSP00000473453.1:n.216+1303T>C
ENST00000486588.6:c.261+1303T>C	ENSP00000473612.1:n.261+1303T>C
NM_013319.2:c.*904T>C	NP_037451.1:n.*904T>C
XM_006710590.2:c.618+1303T>C	XP_006710653.1:n.618+1303T>C
XM_011541304.1:c.530-7838T>C	XP_011539606.1:n.530-7838T>C
XR_946616.1:n.952+1303T>C
NM_001330349.1:c.618+1303T>C	NP_001317278.1:n.618+1303T>C
NM_001330350.1:c.530-7838T>C	NP_001317279.1:n.530-7838T>C
XR_946616.3:n.952+1303T>C
NM_001330349.2:c.618+1303T>C	NP_001317278.1:n.618+1303T>C
NM_001330350.2:c.530-7838T>C	NP_001317279.1:n.530-7838T>C
NM_013319.3:c.*904T>C MANE Select	NP_037451.1:n.*904T>C