Canonical Allele Identifier: CA114582
Gene: UBIAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863
ClinVar RCV Id: RCV000000911
dbSNP Id: rs118203952
MyVariant Identifiers: chr1:g.11345727G>A (hg19) chr1:g.11285670G>A (hg38)
PubMed: PMID:15034782 PMID:18176953
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11285670G>A , CM000663.2:g.11285670G>A GRCh38
NC_000001.10:g.11345727G>A , CM000663.1:g.11345727G>A GRCh37
NC_000001.9:g.11268314G>A NCBI36
NG_009443.1:g.17473G>A
NG_009443.2:g.17473G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376810.6:c.556G>A MANE Select ENSP00000366006.5:p.Gly186Arg
ENST00000376804.2:c.530-9203G>A ENSP00000366000.1:n.530-9203G>A
ENST00000376810.5:c.556G>A ENSP00000366006.5:p.Gly186Arg
ENST00000483738.1:c.154G>A ENSP00000473453.1:p.Gly52Arg
ENST00000486588.6:c.199G>A ENSP00000473612.1:p.Gly67Arg
NM_013319.2:c.556G>A NP_037451.1:p.Gly186Arg
XM_006710590.2:c.556G>A XP_006710653.1:p.Gly186Arg
XM_011541304.1:c.530-9203G>A XP_011539606.1:n.530-9203G>A
XR_946616.1:n.890G>A
NM_001330349.1:c.556G>A NP_001317278.1:p.Gly186Arg
NM_001330350.1:c.530-9203G>A NP_001317279.1:n.530-9203G>A
XR_946616.3:n.890G>A
NM_001330349.2:c.556G>A NP_001317278.1:p.Gly186Arg
NM_001330350.2:c.530-9203G>A NP_001317279.1:n.530-9203G>A
NM_013319.3:c.556G>A MANE Select NP_037451.1:p.Gly186Arg
Search 100 bp 5'
Search 100 bp 3'