Canonical Allele Identifier: CA114575
Gene: UBIAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856
ClinVar RCV Id: RCV000000904
dbSNP Id: rs118203945
gnomAD v4: 1-11273836-A-G
MyVariant Identifiers: chr1:g.11333893A>G (hg19) chr1:g.11273836A>G (hg38)
PubMed: PMID:3486394 PMID:9450854 PMID:15034782 PMID:17668063 PMID:17962451 PMID:18176953 PMID:23169578
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273836A>G , CM000663.2:g.11273836A>G GRCh38
NC_000001.10:g.11333893A>G , CM000663.1:g.11333893A>G GRCh37
NC_000001.9:g.11256480A>G NCBI36
NG_009443.1:g.5639A>G
NG_009443.2:g.5639A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.305A>G MANE Select ENSP00000366006.5:p.Asn102Ser
ENST00000376804.2:c.305A>G ENSP00000366000.1:p.Asn102Ser
ENST00000376810.5:c.305A>G ENSP00000366006.5:p.Asn102Ser
NM_013319.2:c.305A>G NP_037451.1:p.Asn102Ser
XM_006710590.2:c.305A>G XP_006710653.1:p.Asn102Ser
XM_011541304.1:c.305A>G XP_011539606.1:p.Asn102Ser
XR_946616.1:n.639A>G
NM_001330349.1:c.305A>G NP_001317278.1:p.Asn102Ser
NM_001330350.1:c.305A>G NP_001317279.1:p.Asn102Ser
XR_946616.3:n.639A>G
NM_001330349.2:c.305A>G NP_001317278.1:p.Asn102Ser
NM_001330350.2:c.305A>G NP_001317279.1:p.Asn102Ser
NM_013319.3:c.305A>G MANE Select NP_037451.1:p.Asn102Ser
Search 100 bp 5'
Search 100 bp 3'