Canonical Allele Identifier: CA591106

Gene: UBIAD1

Linked Data

• dbSNP Id: rs774950887
• ExAC: 1:11333788 T / TG
• gnomAD v2: 1-11333788-T-TG
• gnomAD v4: 1-11273731-T-TG
• MyVariant Identifiers: chr1:g.11333788_11333789insG (hg19) ; chr1:g.11273731_11273732insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273734dup , CM000663.2:g.11273734dup	GRCh38
NC_000001.10:g.11333791dup , CM000663.1:g.11333791dup	GRCh37
NC_000001.9:g.11256378dup	NCBI36
NG_009443.1:g.5537dup
NG_009443.2:g.5537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.203dup MANE Select	ENSP00000366006.5:p.Ser69GlnfsTer?
ENST00000376804.2:c.203dup	ENSP00000366000.1:p.Ser69GlnfsTer?
ENST00000376810.5:c.203dup	ENSP00000366006.5:p.Ser69GlnfsTer?
NM_013319.2:c.203dup	NP_037451.1:p.Ser69GlnfsTer?
XM_006710590.2:c.203dup	XP_006710653.1:p.Ser69GlnfsTer?
XM_011541304.1:c.203dup	XP_011539606.1:p.Ser69GlnfsTer?
XR_946616.1:n.537dup
NM_001330349.1:c.203dup	NP_001317278.1:p.Ser69GlnfsTer?
NM_001330350.1:c.203dup	NP_001317279.1:p.Ser69GlnfsTer?
XR_946616.3:n.537dup
NM_001330349.2:c.203dup	NP_001317278.1:p.Ser69GlnfsTer?
NM_001330350.2:c.203dup	NP_001317279.1:p.Ser69GlnfsTer?
NM_013319.3:c.203dup MANE Select	NP_037451.1:p.Ser69GlnfsTer?