Canonical Allele Identifier: CA373125419
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173276A>C , CM000671.2:g.27173276A>C GRCh38
NC_000009.11:g.27173274A>C , CM000671.1:g.27173274A>C GRCh37
NC_000009.10:g.27163274A>C NCBI36
NG_011828.1:g.69128A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.815A>C MANE Select ENSP00000369375.4:p.Glu272Ala
ENST00000380036.8:c.815A>C ENSP00000369375.4:p.Glu272Ala
ENST00000406359.8:c.815A>C ENSP00000383977.4:p.Glu272Ala
ENST00000519080.1:c.374A>C ENSP00000428337.1:p.Glu125Ala
ENST00000519097.5:c.503A>C ENSP00000430686.1:p.Glu168Ala
ENST00000615002.4:c.815A>C ENSP00000480251.1:p.Glu272Ala
NM_000459.4:c.815A>C NP_000450.2:p.Glu272Ala
NM_001290077.1:c.815A>C NP_001277006.1:p.Glu272Ala
NM_001290078.1:c.503A>C NP_001277007.1:p.Glu168Ala
XM_005251561.1:c.815A>C XP_005251618.1:p.Glu272Ala
XM_005251563.1:c.815A>C XP_005251620.1:p.Glu272Ala
XM_005251561.2:c.815A>C XP_005251618.1:p.Glu272Ala
XM_005251563.2:c.815A>C XP_005251620.1:p.Glu272Ala
NM_000459.5:c.815A>C MANE Select NP_000450.3:p.Glu272Ala
NM_001375475.1:c.815A>C NP_001362404.1:p.Glu272Ala
NM_001375476.1:c.815A>C NP_001362405.1:p.Glu272Ala