Canonical Allele Identifier: CA5532289
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69360055T>C , CM000672.2:g.69360055T>C GRCh38
NC_000010.10:g.71119811T>C , CM000672.1:g.71119811T>C GRCh37
NC_000010.9:g.70789817T>C NCBI36
NG_012077.1:g.95056T>C , LRG_365:g.95056T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.375+10T>C ENSP00000515580.1:n.375+10T>C
ENST00000703944.1:c.387+10T>C ENSP00000515576.1:n.387+10T>C
ENST00000703945.1:c.291+10T>C ENSP00000515578.1:n.291+10T>C
ENST00000703946.1:c.375+10T>C ENSP00000515579.1:n.375+10T>C
ENST00000703947.1:c.375+10T>C ENSP00000515581.1:n.375+10T>C
ENST00000703948.1:c.227-4728T>C ENSP00000515582.1:n.227-4728T>C
ENST00000703949.1:c.375+10T>C ENSP00000515583.1:n.375+10T>C
ENST00000703950.1:c.375+10T>C ENSP00000515584.1:n.375+10T>C
ENST00000703951.1:c.375+10T>C ENSP00000515585.1:n.375+10T>C
ENST00000703952.1:c.375+10T>C ENSP00000515586.1:n.375+10T>C
ENST00000703953.1:c.375+10T>C ENSP00000515587.1:n.375+10T>C
ENST00000703954.1:c.375+10T>C ENSP00000515588.1:n.375+10T>C
ENST00000703955.1:n.925+10T>C
ENST00000298649.8:c.372+10T>C ENSP00000298649.3:n.372+10T>C
ENST00000359426.7:c.375+10T>C MANE Select ENSP00000352398.6:n.375+10T>C
ENST00000436817.6:c.387+10T>C ENSP00000415949.2:n.387+10T>C
ENST00000493591.6:c.*263+10T>C ENSP00000494917.1:n.*263+10T>C
ENST00000643399.2:c.387+10T>C MANE Plus Clinical ENSP00000494664.1:n.387+10T>C
ENST00000298649.7:c.372+10T>C ENSP00000298649.3:n.372+10T>C
ENST00000359426.6:c.375+10T>C ENSP00000352398.6:n.375+10T>C
ENST00000360289.6:c.339+10T>C ENSP00000353433.2:n.339+10T>C
ENST00000421088.5:c.339+10T>C ENSP00000398316.1:n.339+10T>C
ENST00000436817.5:c.372+10T>C ENSP00000415949.1:n.372+10T>C
ENST00000448642.6:c.387+10T>C ENSP00000402103.3:n.387+10T>C
ENST00000450646.5:c.387+10T>C ENSP00000409761.1:n.387+10T>C
ENST00000493591.5:n.379+10T>C
ENST00000494253.1:n.601+10T>C
NM_000188.2:c.375+10T>C NP_000179.2:n.375+10T>C
NM_033496.2:c.372+10T>C NP_277031.1:n.372+10T>C
NM_033497.2:c.387+10T>C NP_277032.1:n.387+10T>C
NM_033498.2:c.387+10T>C NP_277033.1:n.387+10T>C
NM_033500.2:c.339+10T>C , LRG_365t1:c.339+10T>C NP_277035.2:n.339+10T>C
XM_005269735.2:c.504+10T>C XP_005269792.1:n.504+10T>C
XM_005269736.1:c.387+10T>C XP_005269793.1:n.387+10T>C
XM_005269737.1:c.291+10T>C XP_005269794.1:n.291+10T>C
XM_011539732.1:c.339+10T>C XP_011538034.1:n.339+10T>C
XM_011539733.1:c.333+10T>C XP_011538035.1:n.333+10T>C
XM_011539734.1:c.330+10T>C XP_011538036.1:n.330+10T>C
NM_001322364.1:c.387+10T>C NP_001309293.1:n.387+10T>C
NM_001322365.1:c.480+10T>C NP_001309294.1:n.480+10T>C
NM_001322366.1:c.291+10T>C NP_001309295.1:n.291+10T>C
NM_001322367.1:c.375+10T>C NP_001309296.1:n.375+10T>C
NM_001358263.1:c.387+10T>C MANE Plus Clinical NP_001345192.1:n.387+10T>C
XM_024447969.1:c.387+10T>C XP_024303737.1:n.387+10T>C
NM_000188.3:c.375+10T>C MANE Select NP_000179.2:n.375+10T>C
NM_001322364.2:c.387+10T>C NP_001309293.1:n.387+10T>C
NM_001322365.2:c.480+10T>C NP_001309294.1:n.480+10T>C
NM_033496.3:c.372+10T>C NP_277031.1:n.372+10T>C
NM_033497.3:c.387+10T>C NP_277032.1:n.387+10T>C
NM_033498.3:c.387+10T>C NP_277033.1:n.387+10T>C