Canonical Allele Identifier: CA338691378

Gene: UBIAD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.373A>C MANE Select	ENSP00000366006.5:p.Ile125Leu
ENST00000376804.2:c.373A>C	ENSP00000366000.1:p.Ile125Leu
ENST00000376810.5:c.373A>C	ENSP00000366006.5:p.Ile125Leu
ENST00000486588.6:c.16A>C	ENSP00000473612.1:p.Ile6Leu
NM_013319.2:c.373A>C	NP_037451.1:p.Ile125Leu
XM_006710590.2:c.373A>C	XP_006710653.1:p.Ile125Leu
XM_011541304.1:c.373A>C	XP_011539606.1:p.Ile125Leu
XR_946616.1:n.707A>C
NM_001330349.1:c.373A>C	NP_001317278.1:p.Ile125Leu
NM_001330350.1:c.373A>C	NP_001317279.1:p.Ile125Leu
XR_946616.3:n.707A>C
NM_001330349.2:c.373A>C	NP_001317278.1:p.Ile125Leu
NM_001330350.2:c.373A>C	NP_001317279.1:p.Ile125Leu
NM_013319.3:c.373A>C MANE Select	NP_037451.1:p.Ile125Leu