Canonical Allele Identifier: CA5532287
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69360041G>A , CM000672.2:g.69360041G>A GRCh38
NC_000010.10:g.71119797G>A , CM000672.1:g.71119797G>A GRCh37
NC_000010.9:g.70789803G>A NCBI36
NG_012077.1:g.95042G>A , LRG_365:g.95042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.371G>A ENSP00000515580.1:p.Ser124Asn
ENST00000703944.1:c.383G>A ENSP00000515576.1:p.Ser128Asn
ENST00000703945.1:c.287G>A ENSP00000515578.1:p.Ser96Asn
ENST00000703946.1:c.371G>A ENSP00000515579.1:p.Ser124Asn
ENST00000703947.1:c.371G>A ENSP00000515581.1:p.Ser124Asn
ENST00000703948.1:c.227-4742G>A ENSP00000515582.1:n.227-4742G>A
ENST00000703949.1:c.371G>A ENSP00000515583.1:p.Ser124Asn
ENST00000703950.1:c.371G>A ENSP00000515584.1:p.Ser124Asn
ENST00000703951.1:c.371G>A ENSP00000515585.1:p.Ser124Asn
ENST00000703952.1:c.371G>A ENSP00000515586.1:p.Ser124Asn
ENST00000703953.1:c.371G>A ENSP00000515587.1:p.Ser124Asn
ENST00000703954.1:c.371G>A ENSP00000515588.1:p.Ser124Asn
ENST00000703955.1:n.921G>A
ENST00000298649.8:c.368G>A ENSP00000298649.3:p.Ser123Asn
ENST00000359426.7:c.371G>A MANE Select ENSP00000352398.6:p.Ser124Asn
ENST00000436817.6:c.383G>A ENSP00000415949.2:p.Ser128Asn
ENST00000493591.6:c.*259G>A ENSP00000494917.1:n.*259G>A
ENST00000643399.2:c.383G>A MANE Plus Clinical ENSP00000494664.1:p.Ser128Asn
ENST00000298649.7:c.368G>A ENSP00000298649.3:p.Ser123Asn
ENST00000359426.6:c.371G>A ENSP00000352398.6:p.Ser124Asn
ENST00000360289.6:c.335G>A ENSP00000353433.2:p.Ser112Asn
ENST00000421088.5:c.335G>A ENSP00000398316.1:p.Ser112Asn
ENST00000436817.5:c.368G>A ENSP00000415949.1:p.Ser123Asn
ENST00000448642.6:c.383G>A ENSP00000402103.3:p.Ser128Asn
ENST00000450646.5:c.383G>A ENSP00000409761.1:p.Ser128Asn
ENST00000493591.5:n.375G>A
ENST00000494253.1:n.597G>A
NM_000188.2:c.371G>A NP_000179.2:p.Ser124Asn
NM_033496.2:c.368G>A NP_277031.1:p.Ser123Asn
NM_033497.2:c.383G>A NP_277032.1:p.Ser128Asn
NM_033498.2:c.383G>A NP_277033.1:p.Ser128Asn
NM_033500.2:c.335G>A , LRG_365t1:c.335G>A NP_277035.2:p.Ser112Asn
XM_005269735.2:c.500G>A XP_005269792.1:p.Ser167Asn
XM_005269736.1:c.383G>A XP_005269793.1:p.Ser128Asn
XM_005269737.1:c.287G>A XP_005269794.1:p.Ser96Asn
XM_011539732.1:c.335G>A XP_011538034.1:p.Ser112Asn
XM_011539733.1:c.329G>A XP_011538035.1:p.Ser110Asn
XM_011539734.1:c.326G>A XP_011538036.1:p.Ser109Asn
NM_001322364.1:c.383G>A NP_001309293.1:p.Ser128Asn
NM_001322365.1:c.476G>A NP_001309294.1:p.Ser159Asn
NM_001322366.1:c.287G>A NP_001309295.1:p.Ser96Asn
NM_001322367.1:c.371G>A NP_001309296.1:p.Ser124Asn
NM_001358263.1:c.383G>A MANE Plus Clinical NP_001345192.1:p.Ser128Asn
XM_024447969.1:c.383G>A XP_024303737.1:p.Ser128Asn
NM_000188.3:c.371G>A MANE Select NP_000179.2:p.Ser124Asn
NM_001322364.2:c.383G>A NP_001309293.1:p.Ser128Asn
NM_001322365.2:c.476G>A NP_001309294.1:p.Ser159Asn
NM_033496.3:c.368G>A NP_277031.1:p.Ser123Asn
NM_033497.3:c.383G>A NP_277032.1:p.Ser128Asn
NM_033498.3:c.383G>A NP_277033.1:p.Ser128Asn