Canonical Allele Identifier: CA114576

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 857
• ClinVar RCV Id: RCV000000905
• dbSNP Id: rs118203946
• MyVariant Identifiers: chr1:g.11334117G>C (hg19) ; chr1:g.11274060G>C (hg38)
• PubMed: PMID:17962451 ; PMID:18176953 ; PMID:23169578

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274060G>C , CM000663.2:g.11274060G>C	GRCh38
NC_000001.10:g.11334117G>C , CM000663.1:g.11334117G>C	GRCh37
NC_000001.9:g.11256704G>C	NCBI36
NG_009443.1:g.5863G>C
NG_009443.2:g.5863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.529G>C MANE Select	ENSP00000366006.5:p.Gly177Arg
ENST00000376804.2:c.529G>C	ENSP00000366000.1:p.Val177Leu
ENST00000376810.5:c.529G>C	ENSP00000366006.5:p.Gly177Arg
ENST00000483738.1:c.127G>C	ENSP00000473453.1:p.Gly43Arg
ENST00000486588.6:c.172G>C	ENSP00000473612.1:p.Gly58Arg
NM_013319.2:c.529G>C	NP_037451.1:p.Gly177Arg
XM_006710590.2:c.529G>C	XP_006710653.1:p.Gly177Arg
XM_011541304.1:c.529G>C	XP_011539606.1:p.Val177Leu
XR_946616.1:n.863G>C
NM_001330349.1:c.529G>C	NP_001317278.1:p.Gly177Arg
NM_001330350.1:c.529G>C	NP_001317279.1:p.Val177Leu
XR_946616.3:n.863G>C
NM_001330349.2:c.529G>C	NP_001317278.1:p.Gly177Arg
NM_001330350.2:c.529G>C	NP_001317279.1:p.Val177Leu
NM_013319.3:c.529G>C MANE Select	NP_037451.1:p.Gly177Arg