Canonical Allele Identifier: CA373122813
Gene: TEK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27212740A>T , CM000671.2:g.27212740A>T GRCh38
NC_000009.11:g.27212738A>T , CM000671.1:g.27212738A>T GRCh37
NC_000009.10:g.27202738A>T NCBI36
NG_011828.1:g.108592A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.2720A>T MANE Select ENSP00000369375.4:p.His907Leu
ENST00000380036.8:c.2720A>T ENSP00000369375.4:p.His907Leu
ENST00000406359.8:c.2591A>T ENSP00000383977.4:p.His864Leu
ENST00000519097.5:c.2276A>T ENSP00000430686.1:p.His759Leu
ENST00000615002.4:c.*1221A>T ENSP00000480251.1:n.*1221A>T
NM_000459.4:c.2720A>T NP_000450.2:p.His907Leu
NM_001290077.1:c.2591A>T NP_001277006.1:p.His864Leu
NM_001290078.1:c.2276A>T NP_001277007.1:p.His759Leu
XM_005251561.1:c.2717A>T XP_005251618.1:p.His906Leu
XM_005251563.1:c.2588A>T XP_005251620.1:p.His863Leu
XM_005251561.2:c.2717A>T XP_005251618.1:p.His906Leu
XM_005251563.2:c.2588A>T XP_005251620.1:p.His863Leu
NM_000459.5:c.2720A>T MANE Select NP_000450.3:p.His907Leu
NM_001375475.1:c.2717A>T NP_001362404.1:p.His906Leu
NM_001375476.1:c.2588A>T NP_001362405.1:p.His863Leu