Canonical Allele Identifier: CA18415491

Gene: UBIAD1

Linked Data

• dbSNP Id: rs761956193
• gnomAD v4: 1-11273956-G-C
• MyVariant Identifiers: chr1:g.11334013G>C (hg19) ; chr1:g.11273956G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273956G>C , CM000663.2:g.11273956G>C	GRCh38
NC_000001.10:g.11334013G>C , CM000663.1:g.11334013G>C	GRCh37
NC_000001.9:g.11256600G>C	NCBI36
NG_009443.1:g.5759G>C
NG_009443.2:g.5759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.425G>C MANE Select	ENSP00000366006.5:p.Gly142Ala
ENST00000376804.2:c.425G>C	ENSP00000366000.1:p.Gly142Ala
ENST00000376810.5:c.425G>C	ENSP00000366006.5:p.Gly142Ala
ENST00000483738.1:c.23G>C	ENSP00000473453.1:p.Gly8Ala
ENST00000486588.6:c.68G>C	ENSP00000473612.1:p.Gly23Ala
NM_013319.2:c.425G>C	NP_037451.1:p.Gly142Ala
XM_006710590.2:c.425G>C	XP_006710653.1:p.Gly142Ala
XM_011541304.1:c.425G>C	XP_011539606.1:p.Gly142Ala
XR_946616.1:n.759G>C
NM_001330349.1:c.425G>C	NP_001317278.1:p.Gly142Ala
NM_001330350.1:c.425G>C	NP_001317279.1:p.Gly142Ala
XR_946616.3:n.759G>C
NM_001330349.2:c.425G>C	NP_001317278.1:p.Gly142Ala
NM_001330350.2:c.425G>C	NP_001317279.1:p.Gly142Ala
NM_013319.3:c.425G>C MANE Select	NP_037451.1:p.Gly142Ala