Canonical Allele Identifier: CA338691567
Gene: UBIAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1391520599
gnomAD v2: 1-11334051-C-G
gnomAD v4: 1-11273994-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273994C>G , CM000663.2:g.11273994C>G GRCh38
NC_000001.10:g.11334051C>G , CM000663.1:g.11334051C>G GRCh37
NC_000001.9:g.11256638C>G NCBI36
NG_009443.1:g.5797C>G
NG_009443.2:g.5797C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.463C>G MANE Select ENSP00000366006.5:p.Leu155Val
ENST00000376804.2:c.463C>G ENSP00000366000.1:p.Leu155Val
ENST00000376810.5:c.463C>G ENSP00000366006.5:p.Leu155Val
ENST00000483738.1:c.61C>G ENSP00000473453.1:p.Leu21Val
ENST00000486588.6:c.106C>G ENSP00000473612.1:p.Leu36Val
NM_013319.2:c.463C>G NP_037451.1:p.Leu155Val
XM_006710590.2:c.463C>G XP_006710653.1:p.Leu155Val
XM_011541304.1:c.463C>G XP_011539606.1:p.Leu155Val
XR_946616.1:n.797C>G
NM_001330349.1:c.463C>G NP_001317278.1:p.Leu155Val
NM_001330350.1:c.463C>G NP_001317279.1:p.Leu155Val
XR_946616.3:n.797C>G
NM_001330349.2:c.463C>G NP_001317278.1:p.Leu155Val
NM_001330350.2:c.463C>G NP_001317279.1:p.Leu155Val
NM_013319.3:c.463C>G MANE Select NP_037451.1:p.Leu155Val