Canonical Allele Identifier: CA591131

Gene: UBIAD1

Linked Data

• dbSNP Id: rs750148638
• ExAC: 1:11333933 G / C
• gnomAD v2: 1-11333933-G-C
• gnomAD v4: 1-11273876-G-C
• MyVariant Identifiers: chr1:g.11333933G>C (hg19) ; chr1:g.11273876G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273876G>C , CM000663.2:g.11273876G>C	GRCh38
NC_000001.10:g.11333933G>C , CM000663.1:g.11333933G>C	GRCh37
NC_000001.9:g.11256520G>C	NCBI36
NG_009443.1:g.5679G>C
NG_009443.2:g.5679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.345G>C MANE Select	ENSP00000366006.5:p.Lys115Asn
ENST00000376804.2:c.345G>C	ENSP00000366000.1:p.Lys115Asn
ENST00000376810.5:c.345G>C	ENSP00000366006.5:p.Lys115Asn
NM_013319.2:c.345G>C	NP_037451.1:p.Lys115Asn
XM_006710590.2:c.345G>C	XP_006710653.1:p.Lys115Asn
XM_011541304.1:c.345G>C	XP_011539606.1:p.Lys115Asn
XR_946616.1:n.679G>C
NM_001330349.1:c.345G>C	NP_001317278.1:p.Lys115Asn
NM_001330350.1:c.345G>C	NP_001317279.1:p.Lys115Asn
XR_946616.3:n.679G>C
NM_001330349.2:c.345G>C	NP_001317278.1:p.Lys115Asn
NM_001330350.2:c.345G>C	NP_001317279.1:p.Lys115Asn
NM_013319.3:c.345G>C MANE Select	NP_037451.1:p.Lys115Asn