Canonical Allele Identifier: CA338691380

Gene: UBIAD1

Linked Data

• MyVariant Identifiers: chr1:g.11333961A>T (hg19) ; chr1:g.11273904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273904A>T , CM000663.2:g.11273904A>T	GRCh38
NC_000001.10:g.11333961A>T , CM000663.1:g.11333961A>T	GRCh37
NC_000001.9:g.11256548A>T	NCBI36
NG_009443.1:g.5707A>T
NG_009443.2:g.5707A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.373A>T MANE Select	ENSP00000366006.5:p.Ile125Phe
ENST00000376804.2:c.373A>T	ENSP00000366000.1:p.Ile125Phe
ENST00000376810.5:c.373A>T	ENSP00000366006.5:p.Ile125Phe
ENST00000486588.6:c.16A>T	ENSP00000473612.1:p.Ile6Phe
NM_013319.2:c.373A>T	NP_037451.1:p.Ile125Phe
XM_006710590.2:c.373A>T	XP_006710653.1:p.Ile125Phe
XM_011541304.1:c.373A>T	XP_011539606.1:p.Ile125Phe
XR_946616.1:n.707A>T
NM_001330349.1:c.373A>T	NP_001317278.1:p.Ile125Phe
NM_001330350.1:c.373A>T	NP_001317279.1:p.Ile125Phe
XR_946616.3:n.707A>T
NM_001330349.2:c.373A>T	NP_001317278.1:p.Ile125Phe
NM_001330350.2:c.373A>T	NP_001317279.1:p.Ile125Phe
NM_013319.3:c.373A>T MANE Select	NP_037451.1:p.Ile125Phe