Canonical Allele Identifier: CA373129747
Gene: TEK HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27183465A>G
GRCh37 chr9:g.27183463A>G
Revel Score:
ENST00000519097 0.114
ENST00000380036 (MANE Select) 0.114
ENST00000346448 0.114
ENST00000406359 0.114
ENST00000519080 0.114
gnomAD v4:
chr9-27183465-A-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
dbSNP:
682632
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183465A>G , CM000671.2:g.27183465A>G GRCh38
NC_000009.11:g.27183463A>G , CM000671.1:g.27183463A>G GRCh37
NC_000009.10:g.27173463A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1037A>G MANE Select ENSP00000369375.4:p.Gln346Arg
ENST00000380036.8:c.1037A>G ENSP00000369375.4:p.Gln346Arg
ENST00000406359.8:c.908A>G ENSP00000383977.4:p.Gln303Arg
ENST00000519080.1:c.467A>G ENSP00000428337.1:p.Gln156Arg
ENST00000519097.5:c.596A>G ENSP00000430686.1:p.Gln199Arg
ENST00000615002.4:c.908A>G ENSP00000480251.1:p.Gln303Arg
XM_005251561.1:c.1037A>G XP_005251618.1:p.Gln346Arg
XM_005251563.1:c.908A>G XP_005251620.1:p.Gln303Arg
XM_005251561.2:c.1037A>G XP_005251618.1:p.Gln346Arg
XM_005251563.2:c.908A>G XP_005251620.1:p.Gln303Arg
NM_000459.5:c.1037A>G MANE Select NP_000450.3:p.Gln346Arg
NM_001375475.1:c.1037A>G NP_001362404.1:p.Gln346Arg
NM_001375476.1:c.908A>G NP_001362405.1:p.Gln303Arg
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