Canonical Allele Identifier: CA416045408

Gene: UBIAD1

Linked Data

• MyVariant Identifiers: chr1:g.11334104T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274047T>C , CM000663.2:g.11274047T>C	GRCh38
NC_000001.10:g.11334104T>C , CM000663.1:g.11334104T>C	GRCh37
NC_000001.9:g.11256691T>C	NCBI36
NG_009443.1:g.5850T>C
NG_009443.2:g.5850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.516T>C MANE Select	ENSP00000366006.5:p.Phe172=
ENST00000376804.2:c.516T>C	ENSP00000366000.1:p.Phe172=
ENST00000376810.5:c.516T>C	ENSP00000366006.5:p.Phe172=
ENST00000483738.1:c.114T>C	ENSP00000473453.1:p.Phe38=
ENST00000486588.6:c.159T>C	ENSP00000473612.1:p.Phe53=
NM_013319.2:c.516T>C	NP_037451.1:p.Phe172=
XM_006710590.2:c.516T>C	XP_006710653.1:p.Phe172=
XM_011541304.1:c.516T>C	XP_011539606.1:p.Phe172=
XR_946616.1:n.850T>C
NM_001330349.1:c.516T>C	NP_001317278.1:p.Phe172=
NM_001330350.1:c.516T>C	NP_001317279.1:p.Phe172=
XR_946616.3:n.850T>C
NM_001330349.2:c.516T>C	NP_001317278.1:p.Phe172=
NM_001330350.2:c.516T>C	NP_001317279.1:p.Phe172=
NM_013319.3:c.516T>C MANE Select	NP_037451.1:p.Phe172=