Canonical Allele Identifier: CA114583

Gene: UBIAD1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11285822C>G , CM000663.2:g.11285822C>G	GRCh38
NC_000001.10:g.11345879C>G , CM000663.1:g.11345879C>G	GRCh37
NC_000001.9:g.11268466C>G	NCBI36
NG_009443.1:g.17625C>G
NG_009443.2:g.17625C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.708C>G MANE Select	ENSP00000366006.5:p.Asp236Glu
ENST00000376804.2:c.530-9051C>G	ENSP00000366000.1:n.530-9051C>G
ENST00000376810.5:c.708C>G	ENSP00000366006.5:p.Asp236Glu
ENST00000483738.1:c.216+90C>G	ENSP00000473453.1:n.216+90C>G
ENST00000486588.6:c.261+90C>G	ENSP00000473612.1:n.261+90C>G
NM_013319.2:c.708C>G	NP_037451.1:p.Asp236Glu
XM_006710590.2:c.618+90C>G	XP_006710653.1:n.618+90C>G
XM_011541304.1:c.530-9051C>G	XP_011539606.1:n.530-9051C>G
XR_946616.1:n.952+90C>G
NM_001330349.1:c.618+90C>G	NP_001317278.1:n.618+90C>G
NM_001330350.1:c.530-9051C>G	NP_001317279.1:n.530-9051C>G
XR_946616.3:n.952+90C>G
NM_001330349.2:c.618+90C>G	NP_001317278.1:n.618+90C>G
NM_001330350.2:c.530-9051C>G	NP_001317279.1:n.530-9051C>G
NM_013319.3:c.708C>G MANE Select	NP_037451.1:p.Asp236Glu