Canonical Allele Identifier: CA376909530
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382503C>T , CM000672.2:g.69382503C>T GRCh38
NC_000010.10:g.71142259C>T , CM000672.1:g.71142259C>T GRCh37
NC_000010.9:g.70812265C>T NCBI36
NG_012077.1:g.117504C>T , LRG_365:g.117504C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470050.2:c.1282C>T ENSP00000515580.1:p.His428Tyr
ENST00000703945.1:c.1198C>T ENSP00000515578.1:p.His400Tyr
ENST00000703946.1:c.1265+2408C>T ENSP00000515579.1:n.1265+2408C>T
ENST00000703947.1:c.892C>T ENSP00000515581.1:p.His298Tyr
ENST00000703948.1:c.*899C>T ENSP00000515582.1:n.*899C>T
ENST00000703949.1:c.1282C>T ENSP00000515583.1:p.His428Tyr
ENST00000703950.1:c.1282C>T ENSP00000515584.1:p.His428Tyr
ENST00000703951.1:c.1265+2408C>T ENSP00000515585.1:n.1265+2408C>T
ENST00000703952.1:c.1265+2408C>T ENSP00000515586.1:n.1265+2408C>T
ENST00000703953.1:c.*545C>T ENSP00000515587.1:n.*545C>T
ENST00000703954.1:c.1162C>T ENSP00000515588.1:p.His388Tyr
ENST00000703955.1:n.1832C>T
ENST00000298649.8:c.1279C>T ENSP00000298649.3:p.His427Tyr
ENST00000359426.7:c.1282C>T MANE Select ENSP00000352398.6:p.His428Tyr
ENST00000436817.6:c.1294C>T ENSP00000415949.2:p.His432Tyr
ENST00000493591.6:c.*1170C>T ENSP00000494917.1:n.*1170C>T
ENST00000643399.2:c.1294C>T MANE Plus Clinical ENSP00000494664.1:p.His432Tyr
ENST00000298649.7:c.1279C>T ENSP00000298649.3:p.His427Tyr
ENST00000359426.6:c.1282C>T ENSP00000352398.6:p.His428Tyr
ENST00000360289.6:c.1246C>T ENSP00000353433.2:p.His416Tyr
ENST00000448642.6:c.1294C>T ENSP00000402103.3:p.His432Tyr
ENST00000494253.1:n.1508C>T
NM_000188.2:c.1282C>T NP_000179.2:p.His428Tyr
NM_033496.2:c.1279C>T NP_277031.1:p.His427Tyr
NM_033497.2:c.1294C>T NP_277032.1:p.His432Tyr
NM_033498.2:c.1294C>T NP_277033.1:p.His432Tyr
NM_033500.2:c.1246C>T , LRG_365t1:c.1246C>T NP_277035.2:p.His416Tyr
XM_005269735.2:c.1411C>T XP_005269792.1:p.His471Tyr
XM_005269736.1:c.1294C>T XP_005269793.1:p.His432Tyr
XM_005269737.1:c.1198C>T XP_005269794.1:p.His400Tyr
XM_011539732.1:c.1246C>T XP_011538034.1:p.His416Tyr
XM_011539733.1:c.1240C>T XP_011538035.1:p.His414Tyr
XM_011539734.1:c.1237C>T XP_011538036.1:p.His413Tyr
NM_001322364.1:c.1294C>T NP_001309293.1:p.His432Tyr
NM_001322365.1:c.1387C>T NP_001309294.1:p.His463Tyr
NM_001322366.1:c.1198C>T NP_001309295.1:p.His400Tyr
NM_001322367.1:c.1186C>T NP_001309296.1:p.His396Tyr
NM_001358263.1:c.1294C>T MANE Plus Clinical NP_001345192.1:p.His432Tyr
XM_024447969.1:c.1294C>T XP_024303737.1:p.His432Tyr
NM_000188.3:c.1282C>T MANE Select NP_000179.2:p.His428Tyr
NM_001322364.2:c.1294C>T NP_001309293.1:p.His432Tyr
NM_001322365.2:c.1387C>T NP_001309294.1:p.His463Tyr
NM_033496.3:c.1279C>T NP_277031.1:p.His427Tyr
NM_033497.3:c.1294C>T NP_277032.1:p.His432Tyr
NM_033498.3:c.1294C>T NP_277033.1:p.His432Tyr