Canonical Allele Identifier: CA373125168
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173246G>T , CM000671.2:g.27173246G>T GRCh38
NC_000009.11:g.27173244G>T , CM000671.1:g.27173244G>T GRCh37
NC_000009.10:g.27163244G>T NCBI36
NG_011828.1:g.69098G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380036.10:c.785G>T MANE Select ENSP00000369375.4:p.Arg262Ile
ENST00000380036.8:c.785G>T ENSP00000369375.4:p.Arg262Ile
ENST00000406359.8:c.785G>T ENSP00000383977.4:p.Arg262Ile
ENST00000519080.1:c.344G>T ENSP00000428337.1:p.Arg115Ile
ENST00000519097.5:c.473G>T ENSP00000430686.1:p.Arg158Ile
ENST00000615002.4:c.785G>T ENSP00000480251.1:p.Arg262Ile
NM_000459.4:c.785G>T NP_000450.2:p.Arg262Ile
NM_001290077.1:c.785G>T NP_001277006.1:p.Arg262Ile
NM_001290078.1:c.473G>T NP_001277007.1:p.Arg158Ile
XM_005251561.1:c.785G>T XP_005251618.1:p.Arg262Ile
XM_005251563.1:c.785G>T XP_005251620.1:p.Arg262Ile
XM_005251561.2:c.785G>T XP_005251618.1:p.Arg262Ile
XM_005251563.2:c.785G>T XP_005251620.1:p.Arg262Ile
NM_000459.5:c.785G>T MANE Select NP_000450.3:p.Arg262Ile
NM_001375475.1:c.785G>T NP_001362404.1:p.Arg262Ile
NM_001375476.1:c.785G>T NP_001362405.1:p.Arg262Ile