Canonical Allele Identifier: CA416045454

Gene: UBIAD1

Linked Data

• dbSNP Id: rs118203953
• gnomAD v2: 1-11345879-C-T
• gnomAD v4: 1-11285822-C-T
• MyVariant Identifiers: chr1:g.11345879C>T (hg19) ; chr1:g.11285822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11285822C>T , CM000663.2:g.11285822C>T	GRCh38
NC_000001.10:g.11345879C>T , CM000663.1:g.11345879C>T	GRCh37
NC_000001.9:g.11268466C>T	NCBI36
NG_009443.1:g.17625C>T
NG_009443.2:g.17625C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.708C>T MANE Select	ENSP00000366006.5:p.Asp236=
ENST00000376804.2:c.530-9051C>T	ENSP00000366000.1:n.530-9051C>T
ENST00000376810.5:c.708C>T	ENSP00000366006.5:p.Asp236=
ENST00000483738.1:c.216+90C>T	ENSP00000473453.1:n.216+90C>T
ENST00000486588.6:c.261+90C>T	ENSP00000473612.1:n.261+90C>T
NM_013319.2:c.708C>T	NP_037451.1:p.Asp236=
XM_006710590.2:c.618+90C>T	XP_006710653.1:n.618+90C>T
XM_011541304.1:c.530-9051C>T	XP_011539606.1:n.530-9051C>T
XR_946616.1:n.952+90C>T
NM_001330349.1:c.618+90C>T	NP_001317278.1:n.618+90C>T
NM_001330350.1:c.530-9051C>T	NP_001317279.1:n.530-9051C>T
XR_946616.3:n.952+90C>T
NM_001330349.2:c.618+90C>T	NP_001317278.1:n.618+90C>T
NM_001330350.2:c.530-9051C>T	NP_001317279.1:n.530-9051C>T
NM_013319.3:c.708C>T MANE Select	NP_037451.1:p.Asp236=