Canonical Allele Identifier: CA338690991

Gene: UBIAD1

Linked Data

• ClinVar Variation Id: 874962
• ClinVar RCV Id: RCV001098379
• dbSNP Id: rs1651875842
• MyVariant Identifiers: chr1:g.11333779C>T (hg19) ; chr1:g.11273722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273722C>T , CM000663.2:g.11273722C>T	GRCh38
NC_000001.10:g.11333779C>T , CM000663.1:g.11333779C>T	GRCh37
NC_000001.9:g.11256366C>T	NCBI36
NG_009443.1:g.5525C>T
NG_009443.2:g.5525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.191C>T MANE Select	ENSP00000366006.5:p.Pro64Leu
ENST00000376804.2:c.191C>T	ENSP00000366000.1:p.Pro64Leu
ENST00000376810.5:c.191C>T	ENSP00000366006.5:p.Pro64Leu
NM_013319.2:c.191C>T	NP_037451.1:p.Pro64Leu
XM_006710590.2:c.191C>T	XP_006710653.1:p.Pro64Leu
XM_011541304.1:c.191C>T	XP_011539606.1:p.Pro64Leu
XR_946616.1:n.525C>T
NM_001330349.1:c.191C>T	NP_001317278.1:p.Pro64Leu
NM_001330350.1:c.191C>T	NP_001317279.1:p.Pro64Leu
XR_946616.3:n.525C>T
NM_001330349.2:c.191C>T	NP_001317278.1:p.Pro64Leu
NM_001330350.2:c.191C>T	NP_001317279.1:p.Pro64Leu
NM_013319.3:c.191C>T MANE Select	NP_037451.1:p.Pro64Leu