Canonical Allele Identifier: CA373125395
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173273A>T , CM000671.2:g.27173273A>T GRCh38
NC_000009.11:g.27173271A>T , CM000671.1:g.27173271A>T GRCh37
NC_000009.10:g.27163271A>T NCBI36
NG_011828.1:g.69125A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.812A>T MANE Select ENSP00000369375.4:p.Gln271Leu
ENST00000380036.8:c.812A>T ENSP00000369375.4:p.Gln271Leu
ENST00000406359.8:c.812A>T ENSP00000383977.4:p.Gln271Leu
ENST00000519080.1:c.371A>T ENSP00000428337.1:p.Gln124Leu
ENST00000519097.5:c.500A>T ENSP00000430686.1:p.Gln167Leu
ENST00000615002.4:c.812A>T ENSP00000480251.1:p.Gln271Leu
NM_000459.4:c.812A>T NP_000450.2:p.Gln271Leu
NM_001290077.1:c.812A>T NP_001277006.1:p.Gln271Leu
NM_001290078.1:c.500A>T NP_001277007.1:p.Gln167Leu
XM_005251561.1:c.812A>T XP_005251618.1:p.Gln271Leu
XM_005251563.1:c.812A>T XP_005251620.1:p.Gln271Leu
XM_005251561.2:c.812A>T XP_005251618.1:p.Gln271Leu
XM_005251563.2:c.812A>T XP_005251620.1:p.Gln271Leu
NM_000459.5:c.812A>T MANE Select NP_000450.3:p.Gln271Leu
NM_001375475.1:c.812A>T NP_001362404.1:p.Gln271Leu
NM_001375476.1:c.812A>T NP_001362405.1:p.Gln271Leu