Canonical Allele Identifier: CA998592139

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1651884834
• gnomAD v3: 1-11273855-C-CAA
• gnomAD v4: 1-11273855-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273856_11273857dup , CM000663.2:g.11273856_11273857dup	GRCh38
NC_000001.10:g.11333913_11333914dup , CM000663.1:g.11333913_11333914dup	GRCh37
NC_000001.9:g.11256500_11256501dup	NCBI36
NG_009443.1:g.5659_5660dup
NG_009443.2:g.5659_5660dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.325_326dup MANE Select	ENSP00000366006.5:p.Gly110ArgfsTer?
ENST00000376804.2:c.325_326dup	ENSP00000366000.1:p.Gly110ArgfsTer?
ENST00000376810.5:c.325_326dup	ENSP00000366006.5:p.Gly110ArgfsTer?
NM_013319.2:c.325_326dup	NP_037451.1:p.Gly110ArgfsTer?
XM_006710590.2:c.325_326dup	XP_006710653.1:p.Gly110ArgfsTer?
XM_011541304.1:c.325_326dup	XP_011539606.1:p.Gly110ArgfsTer?
XR_946616.1:n.659_660dup
NM_001330349.1:c.325_326dup	NP_001317278.1:p.Gly110ArgfsTer?
NM_001330350.1:c.325_326dup	NP_001317279.1:p.Gly110ArgfsTer?
XR_946616.3:n.659_660dup
NM_001330349.2:c.325_326dup	NP_001317278.1:p.Gly110ArgfsTer?
NM_001330350.2:c.325_326dup	NP_001317279.1:p.Gly110ArgfsTer?
NM_013319.3:c.325_326dup MANE Select	NP_037451.1:p.Gly110ArgfsTer?