Canonical Allele Identifier: CA1153587338

Gene: UBIAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273778C= , CM000663.2:g.11273778C=	GRCh38
NC_000001.10:g.11333835C= , CM000663.1:g.11333835C=	GRCh37
NC_000001.9:g.11256422C=	NCBI36
NG_009443.1:g.5581C=
NG_009443.2:g.5581C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.247C= MANE Select	ENSP00000366006.5:p.Leu83=
ENST00000376804.2:c.247C=	ENSP00000366000.1:p.Leu83=
ENST00000376810.5:c.247C=	ENSP00000366006.5:p.Leu83=
NM_013319.2:c.247C=	NP_037451.1:p.Leu83=
XM_006710590.2:c.247C=	XP_006710653.1:p.Leu83=
XM_011541304.1:c.247C=	XP_011539606.1:p.Leu83=
XR_946616.1:n.581C=
NM_001330349.1:c.247C=	NP_001317278.1:p.Leu83=
NM_001330350.1:c.247C=	NP_001317279.1:p.Leu83=
XR_946616.3:n.581C=
NM_001330349.2:c.247C=	NP_001317278.1:p.Leu83=
NM_001330350.2:c.247C=	NP_001317279.1:p.Leu83=
NM_013319.3:c.247C= MANE Select	NP_037451.1:p.Leu83=