Canonical Allele Identifier: CA5015919
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27168578G>A
GRCh37 chr9:g.27168576G>A
Revel Score:
ENST00000519097 0.333
ENST00000380036 (MANE Select) 0.333
ENST00000346448 0.333
ENST00000406359 0.333
gnomAD v2:
9:27168576 G / A
gnomAD v3:
9:27168578 G / A
gnomAD v4:
chr9-27168578-G-A
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00005285 (AMR)
ClinVar RCV:
RCV004469533
ClinVar Variation:
3175724
dbSNP:
753021890
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27168578G>A , CM000671.2:g.27168578G>A GRCh38
NC_000009.11:g.27168576G>A , CM000671.1:g.27168576G>A GRCh37
NC_000009.10:g.27158576G>A NCBI36
NG_011828.1:g.64430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.448G>A MANE Select ENSP00000369375.4:p.Glu150Lys
ENST00000380036.8:c.448G>A ENSP00000369375.4:p.Glu150Lys
ENST00000406359.8:c.448G>A ENSP00000383977.4:p.Glu150Lys
ENST00000519080.1:c.53-917G>A ENSP00000428337.1:n.53-917G>A
ENST00000519097.5:c.136G>A ENSP00000430686.1:p.Glu46Lys
ENST00000615002.4:c.448G>A ENSP00000480251.1:p.Glu150Lys
NM_000459.4:c.448G>A NP_000450.2:p.Glu150Lys
NM_001290077.1:c.448G>A NP_001277006.1:p.Glu150Lys
NM_001290078.1:c.136G>A NP_001277007.1:p.Glu46Lys
XM_005251561.1:c.448G>A XP_005251618.1:p.Glu150Lys
XM_005251563.1:c.448G>A XP_005251620.1:p.Glu150Lys
XM_005251561.2:c.448G>A XP_005251618.1:p.Glu150Lys
XM_005251563.2:c.448G>A XP_005251620.1:p.Glu150Lys
NM_000459.5:c.448G>A MANE Select NP_000450.3:p.Glu150Lys
NM_001375475.1:c.448G>A NP_001362404.1:p.Glu150Lys
NM_001375476.1:c.448G>A NP_001362405.1:p.Glu150Lys
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