Canonical Allele Identifier: CA1153600557
Gene: UBIAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11285733G= , CM000663.2:g.11285733G= GRCh38
NC_000001.10:g.11345790G= , CM000663.1:g.11345790G= GRCh37
NC_000001.9:g.11268377G= NCBI36
NG_009443.1:g.17536G=
NG_009443.2:g.17536G=

Transcript Alleles

HGVS Amino-acid change
ENST00000376810.6:c.619G= MANE Select ENSP00000366006.5:p.Val207=
ENST00000376804.2:c.530-9140G= ENSP00000366000.1:n.530-9140G=
ENST00000376810.5:c.619G= ENSP00000366006.5:p.Val207=
ENST00000483738.1:c.216+1G= ENSP00000473453.1:n.216+1G=
ENST00000486588.6:c.261+1G= ENSP00000473612.1:n.261+1G=
NM_013319.2:c.619G= NP_037451.1:p.Val207=
XM_006710590.2:c.618+1G= XP_006710653.1:n.618+1G=
XM_011541304.1:c.530-9140G= XP_011539606.1:n.530-9140G=
XR_946616.1:n.952+1G=
NM_001330349.1:c.618+1G= NP_001317278.1:n.618+1G=
NM_001330350.1:c.530-9140G= NP_001317279.1:n.530-9140G=
XR_946616.3:n.952+1G=
NM_001330349.2:c.618+1G= NP_001317278.1:n.618+1G=
NM_001330350.2:c.530-9140G= NP_001317279.1:n.530-9140G=
NM_013319.3:c.619G= MANE Select NP_037451.1:p.Val207=