Canonical Allele Identifier: CA373123029
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27212771C>G , CM000671.2:g.27212771C>G GRCh38
NC_000009.11:g.27212769C>G , CM000671.1:g.27212769C>G GRCh37
NC_000009.10:g.27202769C>G NCBI36
NG_011828.1:g.108623C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2751C>G MANE Select ENSP00000369375.4:p.Ser917Arg
ENST00000380036.8:c.2751C>G ENSP00000369375.4:p.Ser917Arg
ENST00000406359.8:c.2622C>G ENSP00000383977.4:p.Ser874Arg
ENST00000519097.5:c.2307C>G ENSP00000430686.1:p.Ser769Arg
ENST00000615002.4:c.*1252C>G ENSP00000480251.1:n.*1252C>G
NM_000459.4:c.2751C>G NP_000450.2:p.Ser917Arg
NM_001290077.1:c.2622C>G NP_001277006.1:p.Ser874Arg
NM_001290078.1:c.2307C>G NP_001277007.1:p.Ser769Arg
XM_005251561.1:c.2748C>G XP_005251618.1:p.Ser916Arg
XM_005251563.1:c.2619C>G XP_005251620.1:p.Ser873Arg
XM_005251561.2:c.2748C>G XP_005251618.1:p.Ser916Arg
XM_005251563.2:c.2619C>G XP_005251620.1:p.Ser873Arg
NM_000459.5:c.2751C>G MANE Select NP_000450.3:p.Ser917Arg
NM_001375475.1:c.2748C>G NP_001362404.1:p.Ser916Arg
NM_001375476.1:c.2619C>G NP_001362405.1:p.Ser873Arg