Canonical Allele Identifier: CA338691680

Gene: UBIAD1

Linked Data

• MyVariant Identifiers: chr1:g.11334105C>T (hg19) ; chr1:g.11274048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274048C>T , CM000663.2:g.11274048C>T	GRCh38
NC_000001.10:g.11334105C>T , CM000663.1:g.11334105C>T	GRCh37
NC_000001.9:g.11256692C>T	NCBI36
NG_009443.1:g.5851C>T
NG_009443.2:g.5851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.517C>T MANE Select	ENSP00000366006.5:p.Leu173Phe
ENST00000376804.2:c.517C>T	ENSP00000366000.1:p.Leu173Phe
ENST00000376810.5:c.517C>T	ENSP00000366006.5:p.Leu173Phe
ENST00000483738.1:c.115C>T	ENSP00000473453.1:p.Leu39Phe
ENST00000486588.6:c.160C>T	ENSP00000473612.1:p.Leu54Phe
NM_013319.2:c.517C>T	NP_037451.1:p.Leu173Phe
XM_006710590.2:c.517C>T	XP_006710653.1:p.Leu173Phe
XM_011541304.1:c.517C>T	XP_011539606.1:p.Leu173Phe
XR_946616.1:n.851C>T
NM_001330349.1:c.517C>T	NP_001317278.1:p.Leu173Phe
NM_001330350.1:c.517C>T	NP_001317279.1:p.Leu173Phe
XR_946616.3:n.851C>T
NM_001330349.2:c.517C>T	NP_001317278.1:p.Leu173Phe
NM_001330350.2:c.517C>T	NP_001317279.1:p.Leu173Phe
NM_013319.3:c.517C>T MANE Select	NP_037451.1:p.Leu173Phe