Canonical Allele Identifier: CA591191

Gene: UBIAD1

Linked Data

• dbSNP Id: rs759274578
• ExAC: 1:11345783 C / T
• gnomAD v2: 1-11345783-C-T
• gnomAD v3: 1-11285726-C-T
• gnomAD v4: 1-11285726-C-T
• MyVariant Identifiers: chr1:g.11345783C>T (hg19) ; chr1:g.11285726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11285726C>T , CM000663.2:g.11285726C>T	GRCh38
NC_000001.10:g.11345783C>T , CM000663.1:g.11345783C>T	GRCh37
NC_000001.9:g.11268370C>T	NCBI36
NG_009443.1:g.17529C>T
NG_009443.2:g.17529C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.612C>T MANE Select	ENSP00000366006.5:p.Ala204=
ENST00000376804.2:c.530-9147C>T	ENSP00000366000.1:n.530-9147C>T
ENST00000376810.5:c.612C>T	ENSP00000366006.5:p.Ala204=
ENST00000483738.1:c.210C>T	ENSP00000473453.1:p.Ala70=
ENST00000486588.6:c.255C>T	ENSP00000473612.1:p.Ala85=
NM_013319.2:c.612C>T	NP_037451.1:p.Ala204=
XM_006710590.2:c.612C>T	XP_006710653.1:p.Ala204=
XM_011541304.1:c.530-9147C>T	XP_011539606.1:n.530-9147C>T
XR_946616.1:n.946C>T
NM_001330349.1:c.612C>T	NP_001317278.1:p.Ala204=
NM_001330350.1:c.530-9147C>T	NP_001317279.1:n.530-9147C>T
XR_946616.3:n.946C>T
NM_001330349.2:c.612C>T	NP_001317278.1:p.Ala204=
NM_001330350.2:c.530-9147C>T	NP_001317279.1:n.530-9147C>T
NM_013319.3:c.612C>T MANE Select	NP_037451.1:p.Ala204=