Canonical Allele Identifier: CA373125729
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173320T>C , CM000671.2:g.27173320T>C GRCh38
NC_000009.11:g.27173318T>C , CM000671.1:g.27173318T>C GRCh37
NC_000009.10:g.27163318T>C NCBI36
NG_011828.1:g.69172T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.859T>C MANE Select ENSP00000369375.4:p.Cys287Arg
ENST00000380036.8:c.859T>C ENSP00000369375.4:p.Cys287Arg
ENST00000406359.8:c.859T>C ENSP00000383977.4:p.Cys287Arg
ENST00000519080.1:c.418T>C ENSP00000428337.1:p.Cys140Arg
ENST00000519097.5:c.547T>C ENSP00000430686.1:p.Cys183Arg
ENST00000615002.4:c.859T>C ENSP00000480251.1:p.Cys287Arg
NM_000459.4:c.859T>C NP_000450.2:p.Cys287Arg
NM_001290077.1:c.859T>C NP_001277006.1:p.Cys287Arg
NM_001290078.1:c.547T>C NP_001277007.1:p.Cys183Arg
XM_005251561.1:c.859T>C XP_005251618.1:p.Cys287Arg
XM_005251563.1:c.859T>C XP_005251620.1:p.Cys287Arg
XM_005251561.2:c.859T>C XP_005251618.1:p.Cys287Arg
XM_005251563.2:c.859T>C XP_005251620.1:p.Cys287Arg
NM_000459.5:c.859T>C MANE Select NP_000450.3:p.Cys287Arg
NM_001375475.1:c.859T>C NP_001362404.1:p.Cys287Arg
NM_001375476.1:c.859T>C NP_001362405.1:p.Cys287Arg