Canonical Allele Identifier: CA373129743
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183464C>G , CM000671.2:g.27183464C>G GRCh38
NC_000009.11:g.27183462C>G , CM000671.1:g.27183462C>G GRCh37
NC_000009.10:g.27173462C>G NCBI36
NG_011828.1:g.79316C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1036C>G MANE Select ENSP00000369375.4:p.Gln346Glu
ENST00000380036.8:c.1036C>G ENSP00000369375.4:p.Gln346Glu
ENST00000406359.8:c.907C>G ENSP00000383977.4:p.Gln303Glu
ENST00000519080.1:c.466C>G ENSP00000428337.1:p.Gln156Glu
ENST00000519097.5:c.595C>G ENSP00000430686.1:p.Gln199Glu
ENST00000615002.4:c.907C>G ENSP00000480251.1:p.Gln303Glu
NM_000459.4:c.1036C>G NP_000450.2:p.Pro346Ala
NM_001290077.1:c.907C>G NP_001277006.1:p.Pro303Ala
NM_001290078.1:c.595C>G NP_001277007.1:p.Pro199Ala
XM_005251561.1:c.1036C>G XP_005251618.1:p.Gln346Glu
XM_005251563.1:c.907C>G XP_005251620.1:p.Gln303Glu
XM_005251561.2:c.1036C>G XP_005251618.1:p.Gln346Glu
XM_005251563.2:c.907C>G XP_005251620.1:p.Gln303Glu
NM_000459.5:c.1036C>G MANE Select NP_000450.3:p.Gln346Glu
NM_001375475.1:c.1036C>G NP_001362404.1:p.Gln346Glu
NM_001375476.1:c.907C>G NP_001362405.1:p.Gln303Glu