Canonical Allele Identifier: CA114579
Gene: UBIAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 860
ClinVar RCV Id: RCV000000908
dbSNP Id: rs118203949
MyVariant Identifiers: chr1:g.11345866A>G (hg19) chr1:g.11285809A>G (hg38)
PubMed: PMID:8190477 PMID:17668063
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11285809A>G , CM000663.2:g.11285809A>G GRCh38
NC_000001.10:g.11345866A>G , CM000663.1:g.11345866A>G GRCh37
NC_000001.9:g.11268453A>G NCBI36
NG_009443.1:g.17612A>G
NG_009443.2:g.17612A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376810.6:c.695A>G MANE Select ENSP00000366006.5:p.Asn232Ser
ENST00000376804.2:c.530-9064A>G ENSP00000366000.1:n.530-9064A>G
ENST00000376810.5:c.695A>G ENSP00000366006.5:p.Asn232Ser
ENST00000483738.1:c.216+77A>G ENSP00000473453.1:n.216+77A>G
ENST00000486588.6:c.261+77A>G ENSP00000473612.1:n.261+77A>G
NM_013319.2:c.695A>G NP_037451.1:p.Asn232Ser
XM_006710590.2:c.618+77A>G XP_006710653.1:n.618+77A>G
XM_011541304.1:c.530-9064A>G XP_011539606.1:n.530-9064A>G
XR_946616.1:n.952+77A>G
NM_001330349.1:c.618+77A>G NP_001317278.1:n.618+77A>G
NM_001330350.1:c.530-9064A>G NP_001317279.1:n.530-9064A>G
XR_946616.3:n.952+77A>G
NM_001330349.2:c.618+77A>G NP_001317278.1:n.618+77A>G
NM_001330350.2:c.530-9064A>G NP_001317279.1:n.530-9064A>G
NM_013319.3:c.695A>G MANE Select NP_037451.1:p.Asn232Ser
Search 100 bp 5'
Search 100 bp 3'