Canonical Allele Identifier: CA373122801
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27212739C>G , CM000671.2:g.27212739C>G GRCh38
NC_000009.11:g.27212737C>G , CM000671.1:g.27212737C>G GRCh37
NC_000009.10:g.27202737C>G NCBI36
NG_011828.1:g.108591C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2719C>G MANE Select ENSP00000369375.4:p.His907Asp
ENST00000380036.8:c.2719C>G ENSP00000369375.4:p.His907Asp
ENST00000406359.8:c.2590C>G ENSP00000383977.4:p.His864Asp
ENST00000519097.5:c.2275C>G ENSP00000430686.1:p.His759Asp
ENST00000615002.4:c.*1220C>G ENSP00000480251.1:n.*1220C>G
NM_000459.4:c.2719C>G NP_000450.2:p.His907Asp
NM_001290077.1:c.2590C>G NP_001277006.1:p.His864Asp
NM_001290078.1:c.2275C>G NP_001277007.1:p.His759Asp
XM_005251561.1:c.2716C>G XP_005251618.1:p.His906Asp
XM_005251563.1:c.2587C>G XP_005251620.1:p.His863Asp
XM_005251561.2:c.2716C>G XP_005251618.1:p.His906Asp
XM_005251563.2:c.2587C>G XP_005251620.1:p.His863Asp
NM_000459.5:c.2719C>G MANE Select NP_000450.3:p.His907Asp
NM_001375475.1:c.2716C>G NP_001362404.1:p.His906Asp
NM_001375476.1:c.2587C>G NP_001362405.1:p.His863Asp