Canonical Allele Identifier: CA521375886

Gene: UBIAD1

Linked Data

• dbSNP Id: rs1446600047
• gnomAD v2: 1-11347406-G-C
• gnomAD v3: 1-11287349-G-C
• gnomAD v4: 1-11287349-G-C
• MyVariant Identifiers: chr1:g.11347406G>C (hg19) ; chr1:g.11287349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287349G>C , CM000663.2:g.11287349G>C	GRCh38
NC_000001.10:g.11347406G>C , CM000663.1:g.11347406G>C	GRCh37
NC_000001.9:g.11269993G>C	NCBI36
NG_009443.1:g.19152G>C
NG_009443.2:g.19152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.*1218G>C MANE Select	ENSP00000366006.5:n.*1218G>C
ENST00000376804.2:c.530-7524G>C	ENSP00000366000.1:n.530-7524G>C
ENST00000376810.5:c.*1218G>C	ENSP00000366006.5:n.*1218G>C
ENST00000483738.1:c.216+1617G>C	ENSP00000473453.1:n.216+1617G>C
ENST00000486588.6:c.261+1617G>C	ENSP00000473612.1:n.261+1617G>C
NM_013319.2:c.*1218G>C	NP_037451.1:n.*1218G>C
XM_006710590.2:c.618+1617G>C	XP_006710653.1:n.618+1617G>C
XM_011541304.1:c.530-7524G>C	XP_011539606.1:n.530-7524G>C
XR_946616.1:n.952+1617G>C
NM_001330349.1:c.618+1617G>C	NP_001317278.1:n.618+1617G>C
NM_001330350.1:c.530-7524G>C	NP_001317279.1:n.530-7524G>C
XR_946616.3:n.952+1617G>C
NM_001330349.2:c.618+1617G>C	NP_001317278.1:n.618+1617G>C
NM_001330350.2:c.530-7524G>C	NP_001317279.1:n.530-7524G>C
NM_013319.3:c.*1218G>C MANE Select	NP_037451.1:n.*1218G>C