Canonical Allele Identifier: CA338691040

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273746-C-T
• MyVariant Identifiers: chr1:g.11333803C>T (hg19) ; chr1:g.11273746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273746C>T , CM000663.2:g.11273746C>T	GRCh38
NC_000001.10:g.11333803C>T , CM000663.1:g.11333803C>T	GRCh37
NC_000001.9:g.11256390C>T	NCBI36
NG_009443.1:g.5549C>T
NG_009443.2:g.5549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.215C>T MANE Select	ENSP00000366006.5:p.Ala72Val
ENST00000376804.2:c.215C>T	ENSP00000366000.1:p.Ala72Val
ENST00000376810.5:c.215C>T	ENSP00000366006.5:p.Ala72Val
NM_013319.2:c.215C>T	NP_037451.1:p.Ala72Val
XM_006710590.2:c.215C>T	XP_006710653.1:p.Ala72Val
XM_011541304.1:c.215C>T	XP_011539606.1:p.Ala72Val
XR_946616.1:n.549C>T
NM_001330349.1:c.215C>T	NP_001317278.1:p.Ala72Val
NM_001330350.1:c.215C>T	NP_001317279.1:p.Ala72Val
XR_946616.3:n.549C>T
NM_001330349.2:c.215C>T	NP_001317278.1:p.Ala72Val
NM_001330350.2:c.215C>T	NP_001317279.1:p.Ala72Val
NM_013319.3:c.215C>T MANE Select	NP_037451.1:p.Ala72Val