Canonical Allele Identifier: CA373125773
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173326T>A , CM000671.2:g.27173326T>A GRCh38
NC_000009.11:g.27173324T>A , CM000671.1:g.27173324T>A GRCh37
NC_000009.10:g.27163324T>A NCBI36
NG_011828.1:g.69178T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.865T>A MANE Select ENSP00000369375.4:p.Cys289Ser
ENST00000380036.8:c.865T>A ENSP00000369375.4:p.Cys289Ser
ENST00000406359.8:c.865T>A ENSP00000383977.4:p.Cys289Ser
ENST00000519080.1:c.424T>A ENSP00000428337.1:p.Cys142Ser
ENST00000519097.5:c.553T>A ENSP00000430686.1:p.Cys185Ser
ENST00000615002.4:c.865T>A ENSP00000480251.1:p.Cys289Ser
NM_000459.4:c.865T>A NP_000450.2:p.Cys289Ser
NM_001290077.1:c.865T>A NP_001277006.1:p.Cys289Ser
NM_001290078.1:c.553T>A NP_001277007.1:p.Cys185Ser
XM_005251561.1:c.865T>A XP_005251618.1:p.Cys289Ser
XM_005251563.1:c.865T>A XP_005251620.1:p.Cys289Ser
XM_005251561.2:c.865T>A XP_005251618.1:p.Cys289Ser
XM_005251563.2:c.865T>A XP_005251620.1:p.Cys289Ser
NM_000459.5:c.865T>A MANE Select NP_000450.3:p.Cys289Ser
NM_001375475.1:c.865T>A NP_001362404.1:p.Cys289Ser
NM_001375476.1:c.865T>A NP_001362405.1:p.Cys289Ser