Canonical Allele Identifier: CA373125101
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs138708761
gnomAD v2: 9-27173235-C-A
gnomAD v3: 9-27173237-C-A
gnomAD v4: 9-27173237-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173237C>A , CM000671.2:g.27173237C>A GRCh38
NC_000009.11:g.27173235C>A , CM000671.1:g.27173235C>A GRCh37
NC_000009.10:g.27163235C>A NCBI36
NG_011828.1:g.69089C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.776C>A MANE Select ENSP00000369375.4:p.Thr259Lys
ENST00000380036.8:c.776C>A ENSP00000369375.4:p.Thr259Lys
ENST00000406359.8:c.776C>A ENSP00000383977.4:p.Thr259Lys
ENST00000519080.1:c.335C>A ENSP00000428337.1:p.Thr112Lys
ENST00000519097.5:c.464C>A ENSP00000430686.1:p.Thr155Lys
ENST00000615002.4:c.776C>A ENSP00000480251.1:p.Thr259Lys
NM_000459.4:c.776C>A NP_000450.2:p.Thr259Lys
NM_001290077.1:c.776C>A NP_001277006.1:p.Thr259Lys
NM_001290078.1:c.464C>A NP_001277007.1:p.Thr155Lys
XM_005251561.1:c.776C>A XP_005251618.1:p.Thr259Lys
XM_005251563.1:c.776C>A XP_005251620.1:p.Thr259Lys
XM_005251561.2:c.776C>A XP_005251618.1:p.Thr259Lys
XM_005251563.2:c.776C>A XP_005251620.1:p.Thr259Lys
NM_000459.5:c.776C>A MANE Select NP_000450.3:p.Thr259Lys
NM_001375475.1:c.776C>A NP_001362404.1:p.Thr259Lys
NM_001375476.1:c.776C>A NP_001362405.1:p.Thr259Lys