Canonical Allele Identifier: CA862769363
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs1428701018
gnomAD v3: 9-27173164-A-C
gnomAD v4: 9-27173164-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173164A>C , CM000671.2:g.27173164A>C GRCh38
NC_000009.11:g.27173162A>C , CM000671.1:g.27173162A>C GRCh37
NC_000009.10:g.27163162A>C NCBI36
NG_011828.1:g.69016A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380036.10:c.761-58A>C MANE Select ENSP00000369375.4:n.761-58A>C
ENST00000380036.8:c.761-58A>C ENSP00000369375.4:n.761-58A>C
ENST00000406359.8:c.761-58A>C ENSP00000383977.4:n.761-58A>C
ENST00000519080.1:c.320-58A>C ENSP00000428337.1:n.320-58A>C
ENST00000519097.5:c.449-58A>C ENSP00000430686.1:n.449-58A>C
ENST00000615002.4:c.761-58A>C ENSP00000480251.1:n.761-58A>C
NM_000459.4:c.761-58A>C NP_000450.2:n.761-58A>C
NM_001290077.1:c.761-58A>C NP_001277006.1:n.761-58A>C
NM_001290078.1:c.449-58A>C NP_001277007.1:n.449-58A>C
XM_005251561.1:c.761-58A>C XP_005251618.1:n.761-58A>C
XM_005251563.1:c.761-58A>C XP_005251620.1:n.761-58A>C
XM_005251561.2:c.761-58A>C XP_005251618.1:n.761-58A>C
XM_005251563.2:c.761-58A>C XP_005251620.1:n.761-58A>C
NM_000459.5:c.761-58A>C MANE Select NP_000450.3:n.761-58A>C
NM_001375475.1:c.761-58A>C NP_001362404.1:n.761-58A>C
NM_001375476.1:c.761-58A>C NP_001362405.1:n.761-58A>C