Canonical Allele Identifier: CA5015906
Community Standard Title: NM_000459.5(TEK):c.369C>T (p.Ser123=)
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27168499C>T , CM000671.2:g.27168499C>T GRCh38
NC_000009.11:g.27168497C>T , CM000671.1:g.27168497C>T GRCh37
NC_000009.10:g.27158497C>T NCBI36
NG_011828.1:g.64351C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000459.5:c.369C>T MANE Select NP_000450.3:p.Ser123=
ENST00000380036.10:c.369C>T MANE Select ENSP00000369375.4:p.Ser123=
NM_000459.4:c.369C>T NP_000450.2:p.Ser123=
NM_001290077.1:c.369C>T NP_001277006.1:p.Ser123=
NM_001290078.1:c.57C>T NP_001277007.1:p.Ser19=
NM_001375475.1:c.369C>T NP_001362404.1:p.Ser123=
NM_001375476.1:c.369C>T NP_001362405.1:p.Ser123=
ENST00000380036.8:c.369C>T ENSP00000369375.4:p.Ser123=
ENST00000406359.8:c.369C>T ENSP00000383977.4:p.Ser123=
ENST00000519080.1:c.53-996C>T ENSP00000428337.1:n.53-996C>T
ENST00000519097.5:c.57C>T ENSP00000430686.1:p.Ser19=
ENST00000615002.4:c.369C>T ENSP00000480251.1:p.Ser123=
XM_005251561.1:c.369C>T XP_005251618.1:p.Ser123=
XM_005251561.2:c.369C>T XP_005251618.1:p.Ser123=
XM_005251563.1:c.369C>T XP_005251620.1:p.Ser123=
XM_005251563.2:c.369C>T XP_005251620.1:p.Ser123=