Canonical Allele Identifier: CA373129894
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs1824475996
gnomAD v3: 9-27183498-A-G
gnomAD v4: 9-27183498-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183498A>G , CM000671.2:g.27183498A>G GRCh38
NC_000009.11:g.27183496A>G , CM000671.1:g.27183496A>G GRCh37
NC_000009.10:g.27173496A>G NCBI36
NG_011828.1:g.79350A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1070A>G MANE Select ENSP00000369375.4:p.Asp357Gly
ENST00000380036.8:c.1070A>G ENSP00000369375.4:p.Asp357Gly
ENST00000406359.8:c.941A>G ENSP00000383977.4:p.Asp314Gly
ENST00000519080.1:c.500A>G ENSP00000428337.1:p.Asp167Gly
ENST00000519097.5:c.629A>G ENSP00000430686.1:p.Asp210Gly
ENST00000615002.4:c.941A>G ENSP00000480251.1:p.Asp314Gly
NM_000459.4:c.1070A>G NP_000450.2:p.Asp357Gly
NM_001290077.1:c.941A>G NP_001277006.1:p.Asp314Gly
NM_001290078.1:c.629A>G NP_001277007.1:p.Asp210Gly
XM_005251561.1:c.1070A>G XP_005251618.1:p.Asp357Gly
XM_005251563.1:c.941A>G XP_005251620.1:p.Asp314Gly
XM_005251561.2:c.1070A>G XP_005251618.1:p.Asp357Gly
XM_005251563.2:c.941A>G XP_005251620.1:p.Asp314Gly
NM_000459.5:c.1070A>G MANE Select NP_000450.3:p.Asp357Gly
NM_001375475.1:c.1070A>G NP_001362404.1:p.Asp357Gly
NM_001375476.1:c.941A>G NP_001362405.1:p.Asp314Gly