Canonical Allele Identifier: CA18415489

Gene: UBIAD1

Linked Data

• dbSNP Id: rs947698935
• gnomAD v2: 1-11333996-C-T
• gnomAD v4: 1-11273939-C-T
• MyVariant Identifiers: chr1:g.11333996C>T (hg19) ; chr1:g.11273939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273939C>T , CM000663.2:g.11273939C>T	GRCh38
NC_000001.10:g.11333996C>T , CM000663.1:g.11333996C>T	GRCh37
NC_000001.9:g.11256583C>T	NCBI36
NG_009443.1:g.5742C>T
NG_009443.2:g.5742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.408C>T MANE Select	ENSP00000366006.5:p.Val136=
ENST00000376804.2:c.408C>T	ENSP00000366000.1:p.Val136=
ENST00000376810.5:c.408C>T	ENSP00000366006.5:p.Val136=
ENST00000483738.1:c.6C>T	ENSP00000473453.1:p.Val2=
ENST00000486588.6:c.51C>T	ENSP00000473612.1:p.Val17=
NM_013319.2:c.408C>T	NP_037451.1:p.Val136=
XM_006710590.2:c.408C>T	XP_006710653.1:p.Val136=
XM_011541304.1:c.408C>T	XP_011539606.1:p.Val136=
XR_946616.1:n.742C>T
NM_001330349.1:c.408C>T	NP_001317278.1:p.Val136=
NM_001330350.1:c.408C>T	NP_001317279.1:p.Val136=
XR_946616.3:n.742C>T
NM_001330349.2:c.408C>T	NP_001317278.1:p.Val136=
NM_001330350.2:c.408C>T	NP_001317279.1:p.Val136=
NM_013319.3:c.408C>T MANE Select	NP_037451.1:p.Val136=