Canonical Allele Identifier: CA416045255
Gene: UBIAD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11333948A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273891A>T , CM000663.2:g.11273891A>T GRCh38
NC_000001.10:g.11333948A>T , CM000663.1:g.11333948A>T GRCh37
NC_000001.9:g.11256535A>T NCBI36
NG_009443.1:g.5694A>T
NG_009443.2:g.5694A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376810.6:c.360A>T MANE Select ENSP00000366006.5:p.Thr120=
ENST00000376804.2:c.360A>T ENSP00000366000.1:p.Thr120=
ENST00000376810.5:c.360A>T ENSP00000366006.5:p.Thr120=
ENST00000486588.6:c.3A>T ENSP00000473612.1:p.Thr1=
NM_013319.2:c.360A>T NP_037451.1:p.Thr120=
XM_006710590.2:c.360A>T XP_006710653.1:p.Thr120=
XM_011541304.1:c.360A>T XP_011539606.1:p.Thr120=
XR_946616.1:n.694A>T
NM_001330349.1:c.360A>T NP_001317278.1:p.Thr120=
NM_001330350.1:c.360A>T NP_001317279.1:p.Thr120=
XR_946616.3:n.694A>T
NM_001330349.2:c.360A>T NP_001317278.1:p.Thr120=
NM_001330350.2:c.360A>T NP_001317279.1:p.Thr120=
NM_013319.3:c.360A>T MANE Select NP_037451.1:p.Thr120=