Canonical Allele Identifier: CA114581

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 862
• ClinVar RCV Id: RCV000000910
• dbSNP Id: rs118203951
• MyVariant Identifiers: chr1:g.11334099T>C (hg19) ; chr1:g.11274042T>C (hg38)
• PubMed: PMID:3486394 ; PMID:18176953

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274042T>C , CM000663.2:g.11274042T>C	GRCh38
NC_000001.10:g.11334099T>C , CM000663.1:g.11334099T>C	GRCh37
NC_000001.9:g.11256686T>C	NCBI36
NG_009443.1:g.5845T>C
NG_009443.2:g.5845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.511T>C MANE Select	ENSP00000366006.5:p.Ser171Pro
ENST00000376804.2:c.511T>C	ENSP00000366000.1:p.Ser171Pro
ENST00000376810.5:c.511T>C	ENSP00000366006.5:p.Ser171Pro
ENST00000483738.1:c.109T>C	ENSP00000473453.1:p.Ser37Pro
ENST00000486588.6:c.154T>C	ENSP00000473612.1:p.Ser52Pro
NM_013319.2:c.511T>C	NP_037451.1:p.Ser171Pro
XM_006710590.2:c.511T>C	XP_006710653.1:p.Ser171Pro
XM_011541304.1:c.511T>C	XP_011539606.1:p.Ser171Pro
XR_946616.1:n.845T>C
NM_001330349.1:c.511T>C	NP_001317278.1:p.Ser171Pro
NM_001330350.1:c.511T>C	NP_001317279.1:p.Ser171Pro
XR_946616.3:n.845T>C
NM_001330349.2:c.511T>C	NP_001317278.1:p.Ser171Pro
NM_001330350.2:c.511T>C	NP_001317279.1:p.Ser171Pro
NM_013319.3:c.511T>C MANE Select	NP_037451.1:p.Ser171Pro