Canonical Allele Identifier: CA338691030

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11273742-C-G
• MyVariant Identifiers: chr1:g.11333799C>G (hg19) ; chr1:g.11273742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273742C>G , CM000663.2:g.11273742C>G	GRCh38
NC_000001.10:g.11333799C>G , CM000663.1:g.11333799C>G	GRCh37
NC_000001.9:g.11256386C>G	NCBI36
NG_009443.1:g.5545C>G
NG_009443.2:g.5545C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.211C>G MANE Select	ENSP00000366006.5:p.Leu71Val
ENST00000376804.2:c.211C>G	ENSP00000366000.1:p.Leu71Val
ENST00000376810.5:c.211C>G	ENSP00000366006.5:p.Leu71Val
NM_013319.2:c.211C>G	NP_037451.1:p.Leu71Val
XM_006710590.2:c.211C>G	XP_006710653.1:p.Leu71Val
XM_011541304.1:c.211C>G	XP_011539606.1:p.Leu71Val
XR_946616.1:n.545C>G
NM_001330349.1:c.211C>G	NP_001317278.1:p.Leu71Val
NM_001330350.1:c.211C>G	NP_001317279.1:p.Leu71Val
XR_946616.3:n.545C>G
NM_001330349.2:c.211C>G	NP_001317278.1:p.Leu71Val
NM_001330350.2:c.211C>G	NP_001317279.1:p.Leu71Val
NM_013319.3:c.211C>G MANE Select	NP_037451.1:p.Leu71Val