Canonical Allele Identifier: CA5016113
Gene: TEK HGNC NCBI

Linked Data

ClinVar Variation Id: 1284626
dbSNP Id: rs682632
gnomAD v2: 9-27183463-A-C
gnomAD v3: 9-27183465-A-C
gnomAD v4: 9-27183465-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183465A>C , CM000671.2:g.27183465A>C GRCh38
NC_000009.11:g.27183463A>C , CM000671.1:g.27183463A>C GRCh37
NC_000009.10:g.27173463A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000380036.10:c.1037A>C MANE Select ENSP00000369375.4:p.Gln346Pro
ENST00000380036.8:c.1037A>C ENSP00000369375.4:p.Gln346Pro
ENST00000406359.8:c.908A>C ENSP00000383977.4:p.Gln303Pro
ENST00000519080.1:c.467A>C ENSP00000428337.1:p.Gln156Pro
ENST00000519097.5:c.596A>C ENSP00000430686.1:p.Gln199Pro
ENST00000615002.4:c.908A>C ENSP00000480251.1:p.Gln303Pro
XM_005251561.1:c.1037A>C XP_005251618.1:p.Gln346Pro
XM_005251563.1:c.908A>C XP_005251620.1:p.Gln303Pro
XM_005251561.2:c.1037A>C XP_005251618.1:p.Gln346Pro
XM_005251563.2:c.908A>C XP_005251620.1:p.Gln303Pro
NM_000459.5:c.1037A>C MANE Select NP_000450.3:p.Gln346Pro
NM_001375475.1:c.1037A>C NP_001362404.1:p.Gln346Pro
NM_001375476.1:c.908A>C NP_001362405.1:p.Gln303Pro