Canonical Allele Identifier: CA114581
Gene: UBIAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 862
ClinVar RCV Id: RCV000000910
dbSNP Id: rs118203951

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