Canonical Allele Identifier: CA10607336

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 291892
• ClinVar RCV Id: RCV000301858
• dbSNP Id: rs886045076
• gnomAD v3: 1-11287298-C-T
• gnomAD v4: 1-11287298-C-T
• MyVariant Identifiers: chr1:g.11347355C>T (hg19) ; chr1:g.11287298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287298C>T , CM000663.2:g.11287298C>T	GRCh38
NC_000001.10:g.11347355C>T , CM000663.1:g.11347355C>T	GRCh37
NC_000001.9:g.11269942C>T	NCBI36
NG_009443.1:g.19101C>T
NG_009443.2:g.19101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.*1167C>T MANE Select	ENSP00000366006.5:n.*1167C>T
ENST00000376804.2:c.530-7575C>T	ENSP00000366000.1:n.530-7575C>T
ENST00000376810.5:c.*1167C>T	ENSP00000366006.5:n.*1167C>T
ENST00000483738.1:c.216+1566C>T	ENSP00000473453.1:n.216+1566C>T
ENST00000486588.6:c.261+1566C>T	ENSP00000473612.1:n.261+1566C>T
NM_013319.2:c.*1167C>T	NP_037451.1:n.*1167C>T
XM_006710590.2:c.618+1566C>T	XP_006710653.1:n.618+1566C>T
XM_011541304.1:c.530-7575C>T	XP_011539606.1:n.530-7575C>T
XR_946616.1:n.952+1566C>T
NM_001330349.1:c.618+1566C>T	NP_001317278.1:n.618+1566C>T
NM_001330350.1:c.530-7575C>T	NP_001317279.1:n.530-7575C>T
XR_946616.3:n.952+1566C>T
NM_001330349.2:c.618+1566C>T	NP_001317278.1:n.618+1566C>T
NM_001330350.2:c.530-7575C>T	NP_001317279.1:n.530-7575C>T
NM_013319.3:c.*1167C>T MANE Select	NP_037451.1:n.*1167C>T