Canonical Allele Identifier: CA373125675
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173314T>C , CM000671.2:g.27173314T>C GRCh38
NC_000009.11:g.27173312T>C , CM000671.1:g.27173312T>C GRCh37
NC_000009.10:g.27163312T>C NCBI36
NG_011828.1:g.69166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.853T>C MANE Select ENSP00000369375.4:p.Tyr285His
ENST00000380036.8:c.853T>C ENSP00000369375.4:p.Tyr285His
ENST00000406359.8:c.853T>C ENSP00000383977.4:p.Tyr285His
ENST00000519080.1:c.412T>C ENSP00000428337.1:p.Tyr138His
ENST00000519097.5:c.541T>C ENSP00000430686.1:p.Tyr181His
ENST00000615002.4:c.853T>C ENSP00000480251.1:p.Tyr285His
NM_000459.4:c.853T>C NP_000450.2:p.Tyr285His
NM_001290077.1:c.853T>C NP_001277006.1:p.Tyr285His
NM_001290078.1:c.541T>C NP_001277007.1:p.Tyr181His
XM_005251561.1:c.853T>C XP_005251618.1:p.Tyr285His
XM_005251563.1:c.853T>C XP_005251620.1:p.Tyr285His
XM_005251561.2:c.853T>C XP_005251618.1:p.Tyr285His
XM_005251563.2:c.853T>C XP_005251620.1:p.Tyr285His
NM_000459.5:c.853T>C MANE Select NP_000450.3:p.Tyr285His
NM_001375475.1:c.853T>C NP_001362404.1:p.Tyr285His
NM_001375476.1:c.853T>C NP_001362405.1:p.Tyr285His