Canonical Allele Identifier: CA114576
Gene: UBIAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857
ClinVar RCV Id: RCV000000905
dbSNP Id: rs118203946
MyVariant Identifiers: chr1:g.11334117G>C (hg19) chr1:g.11274060G>C (hg38)
PubMed: PMID:17962451 PMID:18176953 PMID:23169578
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11274060G>C , CM000663.2:g.11274060G>C GRCh38
NC_000001.10:g.11334117G>C , CM000663.1:g.11334117G>C GRCh37
NC_000001.9:g.11256704G>C NCBI36
NG_009443.1:g.5863G>C
NG_009443.2:g.5863G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376810.6:c.529G>C MANE Select ENSP00000366006.5:p.Gly177Arg
ENST00000376804.2:c.529G>C ENSP00000366000.1:p.Val177Leu
ENST00000376810.5:c.529G>C ENSP00000366006.5:p.Gly177Arg
ENST00000483738.1:c.127G>C ENSP00000473453.1:p.Gly43Arg
ENST00000486588.6:c.172G>C ENSP00000473612.1:p.Gly58Arg
NM_013319.2:c.529G>C NP_037451.1:p.Gly177Arg
XM_006710590.2:c.529G>C XP_006710653.1:p.Gly177Arg
XM_011541304.1:c.529G>C XP_011539606.1:p.Val177Leu
XR_946616.1:n.863G>C
NM_001330349.1:c.529G>C NP_001317278.1:p.Gly177Arg
NM_001330350.1:c.529G>C NP_001317279.1:p.Val177Leu
XR_946616.3:n.863G>C
NM_001330349.2:c.529G>C NP_001317278.1:p.Gly177Arg
NM_001330350.2:c.529G>C NP_001317279.1:p.Val177Leu
NM_013319.3:c.529G>C MANE Select NP_037451.1:p.Gly177Arg
Search 100 bp 5'
Search 100 bp 3'