Canonical Allele Identifier: CA2643254459

Gene: UBIAD1

Linked Data

• gnomAD v4: 1-11287313-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11287313G>T , CM000663.2:g.11287313G>T	GRCh38
NC_000001.10:g.11347370G>T , CM000663.1:g.11347370G>T	GRCh37
NC_000001.9:g.11269957G>T	NCBI36
NG_009443.1:g.19116G>T
NG_009443.2:g.19116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.*1182G>T MANE Select	ENSP00000366006.5:n.*1182G>T
ENST00000376804.2:c.530-7560G>T	ENSP00000366000.1:n.530-7560G>T
ENST00000376810.5:c.*1182G>T	ENSP00000366006.5:n.*1182G>T
ENST00000483738.1:c.216+1581G>T	ENSP00000473453.1:n.216+1581G>T
ENST00000486588.6:c.261+1581G>T	ENSP00000473612.1:n.261+1581G>T
NM_013319.2:c.*1182G>T	NP_037451.1:n.*1182G>T
XM_006710590.2:c.618+1581G>T	XP_006710653.1:n.618+1581G>T
XM_011541304.1:c.530-7560G>T	XP_011539606.1:n.530-7560G>T
XR_946616.1:n.952+1581G>T
NM_001330349.1:c.618+1581G>T	NP_001317278.1:n.618+1581G>T
NM_001330350.1:c.530-7560G>T	NP_001317279.1:n.530-7560G>T
XR_946616.3:n.952+1581G>T
NM_001330349.2:c.618+1581G>T	NP_001317278.1:n.618+1581G>T
NM_001330350.2:c.530-7560G>T	NP_001317279.1:n.530-7560G>T
NM_013319.3:c.*1182G>T MANE Select	NP_037451.1:n.*1182G>T