Canonical Allele Identifier: CA5016449
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27204929G>C
GRCh37 chr9:g.27204927G>C
Revel Score:
ENST00000519097 0.195
ENST00000380036 (MANE Select) 0.195
ENST00000406359 0.195
gnomAD v2:
9:27204927 G / C
gnomAD v3:
9:27204929 G / C
gnomAD v4:
chr9-27204929-G-C
Joint Max Group AF 0.000833 (SAS)
Genomes Max Group AF 0.00038041 (EAS)
Exomes Max Group AF 0.00084749 (SAS)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2228G>C MANE Select ENSP00000369375.4:p.Gly743Ala
ENST00000380036.8:c.2228G>C ENSP00000369375.4:p.Gly743Ala
ENST00000406359.8:c.2099G>C ENSP00000383977.4:p.Gly700Ala
ENST00000519097.5:c.1787G>C ENSP00000430686.1:p.Gly596Ala
ENST00000615002.4:c.*729G>C ENSP00000480251.1:n.*729G>C
NM_000459.4:c.2228G>C NP_000450.2:p.Gly743Ala
NM_001290077.1:c.2099G>C NP_001277006.1:p.Gly700Ala
NM_001290078.1:c.1787G>C NP_001277007.1:p.Gly596Ala
XM_005251561.1:c.2228G>C XP_005251618.1:p.Gly743Ala
XM_005251563.1:c.2099G>C XP_005251620.1:p.Gly700Ala
XM_005251561.2:c.2228G>C XP_005251618.1:p.Gly743Ala
XM_005251563.2:c.2099G>C XP_005251620.1:p.Gly700Ala
NM_000459.5:c.2228G>C MANE Select NP_000450.3:p.Gly743Ala
NM_001375475.1:c.2228G>C NP_001362404.1:p.Gly743Ala
NM_001375476.1:c.2099G>C NP_001362405.1:p.Gly700Ala
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