Canonical Allele Identifier: CA1122568398
Gene: TEK HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27202665G>T , CM000671.2:g.27202665G>T GRCh38
NC_000009.11:g.27202663G>T , CM000671.1:g.27202663G>T GRCh37
NC_000009.10:g.27192663G>T NCBI36
NG_011828.1:g.98517G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1910-155G>T MANE Select ENSP00000369375.4:n.1910-155G>T
ENST00000380036.8:c.1910-155G>T ENSP00000369375.4:n.1910-155G>T
ENST00000406359.8:c.1781-155G>T ENSP00000383977.4:n.1781-155G>T
ENST00000519080.1:c.1340-155G>T ENSP00000428337.1:n.1340-155G>T
ENST00000519097.5:c.1469-155G>T ENSP00000430686.1:n.1469-155G>T
ENST00000615002.4:c.*411-155G>T ENSP00000480251.1:n.*411-155G>T
NM_000459.4:c.1910-155G>T NP_000450.2:n.1910-155G>T
NM_001290077.1:c.1781-155G>T NP_001277006.1:n.1781-155G>T
NM_001290078.1:c.1469-155G>T NP_001277007.1:n.1469-155G>T
XM_005251561.1:c.1910-155G>T XP_005251618.1:n.1910-155G>T
XM_005251563.1:c.1781-155G>T XP_005251620.1:n.1781-155G>T
XM_005251561.2:c.1910-155G>T XP_005251618.1:n.1910-155G>T
XM_005251563.2:c.1781-155G>T XP_005251620.1:n.1781-155G>T
NM_000459.5:c.1910-155G>T MANE Select NP_000450.3:n.1910-155G>T
NM_001375475.1:c.1910-155G>T NP_001362404.1:n.1910-155G>T
NM_001375476.1:c.1781-155G>T NP_001362405.1:n.1781-155G>T