Canonical Allele Identifier: CA1842022069
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs1824042862
gnomAD v4: 9-27173505-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173505T>G , CM000671.2:g.27173505T>G GRCh38
NC_000009.11:g.27173503T>G , CM000671.1:g.27173503T>G GRCh37
NC_000009.10:g.27163503T>G NCBI36
NG_011828.1:g.69357T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.901+143T>G MANE Select ENSP00000369375.4:n.901+143T>G
ENST00000380036.8:c.901+143T>G ENSP00000369375.4:n.901+143T>G
ENST00000406359.8:c.901+143T>G ENSP00000383977.4:n.901+143T>G
ENST00000519080.1:c.460+143T>G ENSP00000428337.1:n.460+143T>G
ENST00000519097.5:c.589+143T>G ENSP00000430686.1:n.589+143T>G
ENST00000615002.4:c.901+143T>G ENSP00000480251.1:n.901+143T>G
NM_000459.4:c.901+143T>G NP_000450.2:n.901+143T>G
NM_001290077.1:c.901+143T>G NP_001277006.1:n.901+143T>G
NM_001290078.1:c.589+143T>G NP_001277007.1:n.589+143T>G
XM_005251561.1:c.901+143T>G XP_005251618.1:n.901+143T>G
XM_005251563.1:c.901+143T>G XP_005251620.1:n.901+143T>G
XM_005251561.2:c.901+143T>G XP_005251618.1:n.901+143T>G
XM_005251563.2:c.901+143T>G XP_005251620.1:n.901+143T>G
NM_000459.5:c.901+143T>G MANE Select NP_000450.3:n.901+143T>G
NM_001375475.1:c.901+143T>G NP_001362404.1:n.901+143T>G
NM_001375476.1:c.901+143T>G NP_001362405.1:n.901+143T>G