Canonical Allele Identifier: CA5016451
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27204929G>A
GRCh37 chr9:g.27204927G>A
Revel Score:
ENST00000519097 0.303
ENST00000380036 (MANE Select) 0.303
ENST00000406359 0.303
gnomAD v2:
9:27204927 G / A
gnomAD v3:
9:27204929 G / A
gnomAD v4:
chr9-27204929-G-A
Joint Max Group AF 0.00002665 (NFE)
Exomes Max Group AF 0.00002828 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27204929G>A , CM000671.2:g.27204929G>A GRCh38
NC_000009.11:g.27204927G>A , CM000671.1:g.27204927G>A GRCh37
NC_000009.10:g.27194927G>A NCBI36
NG_011828.1:g.100781G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2228G>A MANE Select ENSP00000369375.4:p.Gly743Glu
ENST00000380036.8:c.2228G>A ENSP00000369375.4:p.Gly743Glu
ENST00000406359.8:c.2099G>A ENSP00000383977.4:p.Gly700Glu
ENST00000519097.5:c.1787G>A ENSP00000430686.1:p.Gly596Glu
ENST00000615002.4:c.*729G>A ENSP00000480251.1:n.*729G>A
NM_000459.4:c.2228G>A NP_000450.2:p.Gly743Glu
NM_001290077.1:c.2099G>A NP_001277006.1:p.Gly700Glu
NM_001290078.1:c.1787G>A NP_001277007.1:p.Gly596Glu
XM_005251561.1:c.2228G>A XP_005251618.1:p.Gly743Glu
XM_005251563.1:c.2099G>A XP_005251620.1:p.Gly700Glu
XM_005251561.2:c.2228G>A XP_005251618.1:p.Gly743Glu
XM_005251563.2:c.2099G>A XP_005251620.1:p.Gly700Glu
NM_000459.5:c.2228G>A MANE Select NP_000450.3:p.Gly743Glu
NM_001375475.1:c.2228G>A NP_001362404.1:p.Gly743Glu
NM_001375476.1:c.2099G>A NP_001362405.1:p.Gly700Glu
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