Canonical Allele Identifier: CA376917829
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69380090C>A , CM000672.2:g.69380090C>A GRCh38
NC_000010.10:g.71139846C>A , CM000672.1:g.71139846C>A GRCh37
NC_000010.9:g.70809852C>A NCBI36
NG_012077.1:g.115091C>A , LRG_365:g.115091C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1260C>A ENSP00000515580.1:p.His420Gln
ENST00000703945.1:c.1176C>A ENSP00000515578.1:p.His392Gln
ENST00000703946.1:c.1260C>A ENSP00000515579.1:p.His420Gln
ENST00000703947.1:c.876-2397C>A ENSP00000515581.1:n.876-2397C>A
ENST00000703948.1:c.*877C>A ENSP00000515582.1:n.*877C>A
ENST00000703949.1:c.1260C>A ENSP00000515583.1:p.His420Gln
ENST00000703950.1:c.1260C>A ENSP00000515584.1:p.His420Gln
ENST00000703951.1:c.1260C>A ENSP00000515585.1:p.His420Gln
ENST00000703952.1:c.1260C>A ENSP00000515586.1:p.His420Gln
ENST00000703953.1:c.*523C>A ENSP00000515587.1:n.*523C>A
ENST00000703954.1:c.1140C>A ENSP00000515588.1:p.His380Gln
ENST00000703955.1:n.1810C>A
ENST00000298649.8:c.1257C>A ENSP00000298649.3:p.His419Gln
ENST00000359426.7:c.1260C>A MANE Select ENSP00000352398.6:p.His420Gln
ENST00000436817.6:c.1272C>A ENSP00000415949.2:p.His424Gln
ENST00000493591.6:c.*1148C>A ENSP00000494917.1:n.*1148C>A
ENST00000643399.2:c.1272C>A MANE Plus Clinical ENSP00000494664.1:p.His424Gln
ENST00000298649.7:c.1257C>A ENSP00000298649.3:p.His419Gln
ENST00000359426.6:c.1260C>A ENSP00000352398.6:p.His420Gln
ENST00000360289.6:c.1224C>A ENSP00000353433.2:p.His408Gln
ENST00000448642.6:c.1272C>A ENSP00000402103.3:p.His424Gln
ENST00000494253.1:n.1486C>A
NM_000188.2:c.1260C>A NP_000179.2:p.His420Gln
NM_033496.2:c.1257C>A NP_277031.1:p.His419Gln
NM_033497.2:c.1272C>A NP_277032.1:p.His424Gln
NM_033498.2:c.1272C>A NP_277033.1:p.His424Gln
NM_033500.2:c.1224C>A , LRG_365t1:c.1224C>A NP_277035.2:p.His408Gln
XM_005269735.2:c.1389C>A XP_005269792.1:p.His463Gln
XM_005269736.1:c.1272C>A XP_005269793.1:p.His424Gln
XM_005269737.1:c.1176C>A XP_005269794.1:p.His392Gln
XM_011539732.1:c.1224C>A XP_011538034.1:p.His408Gln
XM_011539733.1:c.1218C>A XP_011538035.1:p.His406Gln
XM_011539734.1:c.1215C>A XP_011538036.1:p.His405Gln
NM_001322364.1:c.1272C>A NP_001309293.1:p.His424Gln
NM_001322365.1:c.1365C>A NP_001309294.1:p.His455Gln
NM_001322366.1:c.1176C>A NP_001309295.1:p.His392Gln
NM_001322367.1:c.1164C>A NP_001309296.1:p.His388Gln
NM_001358263.1:c.1272C>A MANE Plus Clinical NP_001345192.1:p.His424Gln
XM_024447969.1:c.1272C>A XP_024303737.1:p.His424Gln
NM_000188.3:c.1260C>A MANE Select NP_000179.2:p.His420Gln
NM_001322364.2:c.1272C>A NP_001309293.1:p.His424Gln
NM_001322365.2:c.1365C>A NP_001309294.1:p.His455Gln
NM_033496.3:c.1257C>A NP_277031.1:p.His419Gln
NM_033497.3:c.1272C>A NP_277032.1:p.His424Gln
NM_033498.3:c.1272C>A NP_277033.1:p.His424Gln