Canonical Allele Identifier: CA18415493

Gene: UBIAD1

Linked Data

• dbSNP Id: rs751567830
• gnomAD v4: 1-11273970-G-A
• MyVariant Identifiers: chr1:g.11334027G>A (hg19) ; chr1:g.11273970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273970G>A , CM000663.2:g.11273970G>A	GRCh38
NC_000001.10:g.11334027G>A , CM000663.1:g.11334027G>A	GRCh37
NC_000001.9:g.11256614G>A	NCBI36
NG_009443.1:g.5773G>A
NG_009443.2:g.5773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.439G>A MANE Select	ENSP00000366006.5:p.Ala147Thr
ENST00000376804.2:c.439G>A	ENSP00000366000.1:p.Ala147Thr
ENST00000376810.5:c.439G>A	ENSP00000366006.5:p.Ala147Thr
ENST00000483738.1:c.37G>A	ENSP00000473453.1:p.Ala13Thr
ENST00000486588.6:c.82G>A	ENSP00000473612.1:p.Ala28Thr
NM_013319.2:c.439G>A	NP_037451.1:p.Ala147Thr
XM_006710590.2:c.439G>A	XP_006710653.1:p.Ala147Thr
XM_011541304.1:c.439G>A	XP_011539606.1:p.Ala147Thr
XR_946616.1:n.773G>A
NM_001330349.1:c.439G>A	NP_001317278.1:p.Ala147Thr
NM_001330350.1:c.439G>A	NP_001317279.1:p.Ala147Thr
XR_946616.3:n.773G>A
NM_001330349.2:c.439G>A	NP_001317278.1:p.Ala147Thr
NM_001330350.2:c.439G>A	NP_001317279.1:p.Ala147Thr
NM_013319.3:c.439G>A MANE Select	NP_037451.1:p.Ala147Thr