Canonical Allele Identifier: CA373120887
Gene: TEK HGNC NCBI

Linked Data

gnomAD v4: 9-27206735-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27206735A>C , CM000671.2:g.27206735A>C GRCh38
NC_000009.11:g.27206733A>C , CM000671.1:g.27206733A>C GRCh37
NC_000009.10:g.27196733A>C NCBI36
NG_011828.1:g.102587A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2518A>C MANE Select ENSP00000369375.4:p.Lys840Gln
ENST00000380036.8:c.2518A>C ENSP00000369375.4:p.Lys840Gln
ENST00000406359.8:c.2389A>C ENSP00000383977.4:p.Lys797Gln
ENST00000519097.5:c.2074A>C ENSP00000430686.1:p.Lys692Gln
ENST00000615002.4:c.*1019A>C ENSP00000480251.1:n.*1019A>C
NM_000459.4:c.2518A>C NP_000450.2:p.Lys840Gln
NM_001290077.1:c.2389A>C NP_001277006.1:p.Lys797Gln
NM_001290078.1:c.2074A>C NP_001277007.1:p.Lys692Gln
XM_005251561.1:c.2515A>C XP_005251618.1:p.Lys839Gln
XM_005251563.1:c.2386A>C XP_005251620.1:p.Lys796Gln
XM_005251561.2:c.2515A>C XP_005251618.1:p.Lys839Gln
XM_005251563.2:c.2386A>C XP_005251620.1:p.Lys796Gln
NM_000459.5:c.2518A>C MANE Select NP_000450.3:p.Lys840Gln
NM_001375475.1:c.2515A>C NP_001362404.1:p.Lys839Gln
NM_001375476.1:c.2386A>C NP_001362405.1:p.Lys796Gln