Canonical Allele Identifier: CA416045416
Gene: UBIAD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11334116A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11274059A>C , CM000663.2:g.11274059A>C GRCh38
NC_000001.10:g.11334116A>C , CM000663.1:g.11334116A>C GRCh37
NC_000001.9:g.11256703A>C NCBI36
NG_009443.1:g.5862A>C
NG_009443.2:g.5862A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.528A>C MANE Select ENSP00000366006.5:p.Gly176=
ENST00000376804.2:c.528A>C ENSP00000366000.1:p.Gly176=
ENST00000376810.5:c.528A>C ENSP00000366006.5:p.Gly176=
ENST00000483738.1:c.126A>C ENSP00000473453.1:p.Gly42=
ENST00000486588.6:c.171A>C ENSP00000473612.1:p.Gly57=
NM_013319.2:c.528A>C NP_037451.1:p.Gly176=
XM_006710590.2:c.528A>C XP_006710653.1:p.Gly176=
XM_011541304.1:c.528A>C XP_011539606.1:p.Gly176=
XR_946616.1:n.862A>C
NM_001330349.1:c.528A>C NP_001317278.1:p.Gly176=
NM_001330350.1:c.528A>C NP_001317279.1:p.Gly176=
XR_946616.3:n.862A>C
NM_001330349.2:c.528A>C NP_001317278.1:p.Gly176=
NM_001330350.2:c.528A>C NP_001317279.1:p.Gly176=
NM_013319.3:c.528A>C MANE Select NP_037451.1:p.Gly176=