Canonical Allele Identifier: CA376911263
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384404G>C , CM000672.2:g.69384404G>C GRCh38
NC_000010.10:g.71144160G>C , CM000672.1:g.71144160G>C GRCh37
NC_000010.9:g.70814166G>C NCBI36
NG_012077.1:g.119405G>C , LRG_365:g.119405G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1642G>C ENSP00000515580.1:p.Gly548Arg
ENST00000703945.1:c.1558G>C ENSP00000515578.1:p.Gly520Arg
ENST00000703946.1:c.1265+4309G>C ENSP00000515579.1:n.1265+4309G>C
ENST00000703947.1:c.1252G>C ENSP00000515581.1:p.Gly418Arg
ENST00000703948.1:c.*1259G>C ENSP00000515582.1:n.*1259G>C
ENST00000703949.1:c.1642G>C ENSP00000515583.1:p.Gly548Arg
ENST00000703950.1:c.1642G>C ENSP00000515584.1:p.Gly548Arg
ENST00000703951.1:c.1265+4309G>C ENSP00000515585.1:n.1265+4309G>C
ENST00000703952.1:c.1265+4309G>C ENSP00000515586.1:n.1265+4309G>C
ENST00000703953.1:c.*905G>C ENSP00000515587.1:n.*905G>C
ENST00000703954.1:c.1522G>C ENSP00000515588.1:p.Gly508Arg
ENST00000703955.1:n.2192G>C
ENST00000703957.1:n.147G>C
ENST00000298649.8:c.1639G>C ENSP00000298649.3:p.Gly547Arg
ENST00000359426.7:c.1642G>C MANE Select ENSP00000352398.6:p.Gly548Arg
ENST00000436817.6:c.1654G>C ENSP00000415949.2:p.Gly552Arg
ENST00000493591.6:c.*1530G>C ENSP00000494917.1:n.*1530G>C
ENST00000643399.2:c.1654G>C MANE Plus Clinical ENSP00000494664.1:p.Gly552Arg
ENST00000298649.7:c.1639G>C ENSP00000298649.3:p.Gly547Arg
ENST00000359426.6:c.1642G>C ENSP00000352398.6:p.Gly548Arg
ENST00000360289.6:c.1606G>C ENSP00000353433.2:p.Gly536Arg
ENST00000448642.6:c.1654G>C ENSP00000402103.3:p.Gly552Arg
ENST00000494253.1:n.1868G>C
NM_000188.2:c.1642G>C NP_000179.2:p.Gly548Arg
NM_033496.2:c.1639G>C NP_277031.1:p.Gly547Arg
NM_033497.2:c.1654G>C NP_277032.1:p.Gly552Arg
NM_033498.2:c.1654G>C NP_277033.1:p.Gly552Arg
NM_033500.2:c.1606G>C , LRG_365t1:c.1606G>C NP_277035.2:p.Gly536Arg
XM_005269735.2:c.1771G>C XP_005269792.1:p.Gly591Arg
XM_005269736.1:c.1654G>C XP_005269793.1:p.Gly552Arg
XM_005269737.1:c.1558G>C XP_005269794.1:p.Gly520Arg
XM_011539732.1:c.1606G>C XP_011538034.1:p.Gly536Arg
XM_011539733.1:c.1600G>C XP_011538035.1:p.Gly534Arg
XM_011539734.1:c.1597G>C XP_011538036.1:p.Gly533Arg
NM_001322364.1:c.1654G>C NP_001309293.1:p.Gly552Arg
NM_001322365.1:c.1747G>C NP_001309294.1:p.Gly583Arg
NM_001322366.1:c.1558G>C NP_001309295.1:p.Gly520Arg
NM_001322367.1:c.1546G>C NP_001309296.1:p.Gly516Arg
NM_001358263.1:c.1654G>C MANE Plus Clinical NP_001345192.1:p.Gly552Arg
XM_024447969.1:c.1654G>C XP_024303737.1:p.Gly552Arg
NM_000188.3:c.1642G>C MANE Select NP_000179.2:p.Gly548Arg
NM_001322364.2:c.1654G>C NP_001309293.1:p.Gly552Arg
NM_001322365.2:c.1747G>C NP_001309294.1:p.Gly583Arg
NM_033496.3:c.1639G>C NP_277031.1:p.Gly547Arg
NM_033497.3:c.1654G>C NP_277032.1:p.Gly552Arg
NM_033498.3:c.1654G>C NP_277033.1:p.Gly552Arg