Canonical Allele Identifier: CA373129839
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183486T>C , CM000671.2:g.27183486T>C GRCh38
NC_000009.11:g.27183484T>C , CM000671.1:g.27183484T>C GRCh37
NC_000009.10:g.27173484T>C NCBI36
NG_011828.1:g.79338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1058T>C MANE Select ENSP00000369375.4:p.Val353Ala
ENST00000380036.8:c.1058T>C ENSP00000369375.4:p.Val353Ala
ENST00000406359.8:c.929T>C ENSP00000383977.4:p.Val310Ala
ENST00000519080.1:c.488T>C ENSP00000428337.1:p.Val163Ala
ENST00000519097.5:c.617T>C ENSP00000430686.1:p.Val206Ala
ENST00000615002.4:c.929T>C ENSP00000480251.1:p.Val310Ala
NM_000459.4:c.1058T>C NP_000450.2:p.Val353Ala
NM_001290077.1:c.929T>C NP_001277006.1:p.Val310Ala
NM_001290078.1:c.617T>C NP_001277007.1:p.Val206Ala
XM_005251561.1:c.1058T>C XP_005251618.1:p.Val353Ala
XM_005251563.1:c.929T>C XP_005251620.1:p.Val310Ala
XM_005251561.2:c.1058T>C XP_005251618.1:p.Val353Ala
XM_005251563.2:c.929T>C XP_005251620.1:p.Val310Ala
NM_000459.5:c.1058T>C MANE Select NP_000450.3:p.Val353Ala
NM_001375475.1:c.1058T>C NP_001362404.1:p.Val353Ala
NM_001375476.1:c.929T>C NP_001362405.1:p.Val310Ala