Canonical Allele Identifier: CA416045316

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273924-C-A
• MyVariant Identifiers: chr1:g.11333981C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273924C>A , CM000663.2:g.11273924C>A	GRCh38
NC_000001.10:g.11333981C>A , CM000663.1:g.11333981C>A	GRCh37
NC_000001.9:g.11256568C>A	NCBI36
NG_009443.1:g.5727C>A
NG_009443.2:g.5727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.393C>A MANE Select	ENSP00000366006.5:p.Val131=
ENST00000376804.2:c.393C>A	ENSP00000366000.1:p.Val131=
ENST00000376810.5:c.393C>A	ENSP00000366006.5:p.Val131=
ENST00000486588.6:c.36C>A	ENSP00000473612.1:p.Val12=
NM_013319.2:c.393C>A	NP_037451.1:p.Val131=
XM_006710590.2:c.393C>A	XP_006710653.1:p.Val131=
XM_011541304.1:c.393C>A	XP_011539606.1:p.Val131=
XR_946616.1:n.727C>A
NM_001330349.1:c.393C>A	NP_001317278.1:p.Val131=
NM_001330350.1:c.393C>A	NP_001317279.1:p.Val131=
XR_946616.3:n.727C>A
NM_001330349.2:c.393C>A	NP_001317278.1:p.Val131=
NM_001330350.2:c.393C>A	NP_001317279.1:p.Val131=
NM_013319.3:c.393C>A MANE Select	NP_037451.1:p.Val131=