Canonical Allele Identifier: CA114577
Gene: UBIAD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 858
ClinVar RCV Id: RCV000000906
dbSNP Id: rs118203947

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273886A>G , CM000663.2:g.11273886A>G GRCh38
NC_000001.10:g.11333943A>G , CM000663.1:g.11333943A>G GRCh37
NC_000001.9:g.11256530A>G NCBI36
NG_009443.1:g.5689A>G
NG_009443.2:g.5689A>G

Transcript Alleles

HGVS Amino-acid change
NM_013319.2:c.355A>G VV NP_037451.1:p.Arg119Gly
XM_006710590.2:c.355A>G XP_006710653.1:p.Arg119Gly
XM_011541304.1:c.355A>G XP_011539606.1:p.Arg119Gly
XR_946616.1:n.689A>G
NM_001330349.1:c.355A>G VV NP_001317278.1:p.Arg119Gly
NM_001330350.1:c.355A>G VV NP_001317279.1:p.Arg119Gly
XR_946616.3:n.689A>G
ENST00000376804.2:c.355A>G ENSP00000366000.1:p.Arg119Gly
ENST00000376810.5:c.355A>G ENSP00000366006.5:p.Arg119Gly