Canonical Allele Identifier: CA885653104

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1474321143
• MyVariant Identifiers: chr1:g.11347430C>G (hg19) ; chr1:g.11287373C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287373C>G , CM000663.2:g.11287373C>G	GRCh38
NC_000001.10:g.11347430C>G , CM000663.1:g.11347430C>G	GRCh37
NC_000001.9:g.11270017C>G	NCBI36
NG_009443.1:g.19176C>G
NG_009443.2:g.19176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.*1242C>G MANE Select	ENSP00000366006.5:n.*1242C>G
ENST00000376804.2:c.530-7500C>G	ENSP00000366000.1:n.530-7500C>G
ENST00000376810.5:c.*1242C>G	ENSP00000366006.5:n.*1242C>G
ENST00000483738.1:c.216+1641C>G	ENSP00000473453.1:n.216+1641C>G
ENST00000486588.6:c.261+1641C>G	ENSP00000473612.1:n.261+1641C>G
NM_013319.2:c.*1242C>G	NP_037451.1:n.*1242C>G
XM_006710590.2:c.618+1641C>G	XP_006710653.1:n.618+1641C>G
XM_011541304.1:c.530-7500C>G	XP_011539606.1:n.530-7500C>G
XR_946616.1:n.952+1641C>G
NM_001330349.1:c.618+1641C>G	NP_001317278.1:n.618+1641C>G
NM_001330350.1:c.530-7500C>G	NP_001317279.1:n.530-7500C>G
XR_946616.3:n.952+1641C>G
NM_001330349.2:c.618+1641C>G	NP_001317278.1:n.618+1641C>G
NM_001330350.2:c.530-7500C>G	NP_001317279.1:n.530-7500C>G
NM_013319.3:c.*1242C>G MANE Select	NP_037451.1:n.*1242C>G