Canonical Allele Identifier: CA10607547

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 291893
• ClinVar RCV Id: RCV000361232
• dbSNP Id: rs372234308
• gnomAD v2: 1-11347453-T-A
• gnomAD v3: 1-11287396-T-A
• gnomAD v4: 1-11287396-T-A
• MyVariant Identifiers: chr1:g.11347453T>A (hg19) ; chr1:g.11287396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287396T>A , CM000663.2:g.11287396T>A	GRCh38
NC_000001.10:g.11347453T>A , CM000663.1:g.11347453T>A	GRCh37
NC_000001.9:g.11270040T>A	NCBI36
NG_009443.1:g.19199T>A
NG_009443.2:g.19199T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.*1265T>A MANE Select	ENSP00000366006.5:n.*1265T>A
ENST00000376804.2:c.530-7477T>A	ENSP00000366000.1:n.530-7477T>A
ENST00000376810.5:c.*1265T>A	ENSP00000366006.5:n.*1265T>A
ENST00000483738.1:c.216+1664T>A	ENSP00000473453.1:n.216+1664T>A
ENST00000486588.6:c.261+1664T>A	ENSP00000473612.1:n.261+1664T>A
NM_013319.2:c.*1265T>A	NP_037451.1:n.*1265T>A
XM_006710590.2:c.618+1664T>A	XP_006710653.1:n.618+1664T>A
XM_011541304.1:c.530-7477T>A	XP_011539606.1:n.530-7477T>A
XR_946616.1:n.952+1664T>A
NM_001330349.1:c.618+1664T>A	NP_001317278.1:n.618+1664T>A
NM_001330350.1:c.530-7477T>A	NP_001317279.1:n.530-7477T>A
XR_946616.3:n.952+1664T>A
NM_001330349.2:c.618+1664T>A	NP_001317278.1:n.618+1664T>A
NM_001330350.2:c.530-7477T>A	NP_001317279.1:n.530-7477T>A
NM_013319.3:c.*1265T>A MANE Select	NP_037451.1:n.*1265T>A