Canonical Allele Identifier: CA376909663
Gene: HK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382567G>A , CM000672.2:g.69382567G>A GRCh38
NC_000010.10:g.71142323G>A , CM000672.1:g.71142323G>A GRCh37
NC_000010.9:g.70812329G>A NCBI36
NG_012077.1:g.117568G>A , LRG_365:g.117568G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1346G>A ENSP00000515580.1:p.Ser449Asn
ENST00000703945.1:c.1262G>A ENSP00000515578.1:p.Ser421Asn
ENST00000703946.1:c.1265+2472G>A ENSP00000515579.1:n.1265+2472G>A
ENST00000703947.1:c.956G>A ENSP00000515581.1:p.Ser319Asn
ENST00000703948.1:c.*963G>A ENSP00000515582.1:n.*963G>A
ENST00000703949.1:c.1346G>A ENSP00000515583.1:p.Ser449Asn
ENST00000703950.1:c.1346G>A ENSP00000515584.1:p.Ser449Asn
ENST00000703951.1:c.1265+2472G>A ENSP00000515585.1:n.1265+2472G>A
ENST00000703952.1:c.1265+2472G>A ENSP00000515586.1:n.1265+2472G>A
ENST00000703953.1:c.*609G>A ENSP00000515587.1:n.*609G>A
ENST00000703954.1:c.1226G>A ENSP00000515588.1:p.Ser409Asn
ENST00000703955.1:n.1896G>A
ENST00000298649.8:c.1343G>A ENSP00000298649.3:p.Ser448Asn
ENST00000359426.7:c.1346G>A MANE Select ENSP00000352398.6:p.Ser449Asn
ENST00000436817.6:c.1358G>A ENSP00000415949.2:p.Ser453Asn
ENST00000493591.6:c.*1234G>A ENSP00000494917.1:n.*1234G>A
ENST00000643399.2:c.1358G>A MANE Plus Clinical ENSP00000494664.1:p.Ser453Asn
ENST00000298649.7:c.1343G>A ENSP00000298649.3:p.Ser448Asn
ENST00000359426.6:c.1346G>A ENSP00000352398.6:p.Ser449Asn
ENST00000360289.6:c.1310G>A ENSP00000353433.2:p.Ser437Asn
ENST00000448642.6:c.1358G>A ENSP00000402103.3:p.Ser453Asn
ENST00000494253.1:n.1572G>A
NM_000188.2:c.1346G>A NP_000179.2:p.Ser449Asn
NM_033496.2:c.1343G>A NP_277031.1:p.Ser448Asn
NM_033497.2:c.1358G>A NP_277032.1:p.Ser453Asn
NM_033498.2:c.1358G>A NP_277033.1:p.Ser453Asn
NM_033500.2:c.1310G>A , LRG_365t1:c.1310G>A NP_277035.2:p.Ser437Asn
XM_005269735.2:c.1475G>A XP_005269792.1:p.Ser492Asn
XM_005269736.1:c.1358G>A XP_005269793.1:p.Ser453Asn
XM_005269737.1:c.1262G>A XP_005269794.1:p.Ser421Asn
XM_011539732.1:c.1310G>A XP_011538034.1:p.Ser437Asn
XM_011539733.1:c.1304G>A XP_011538035.1:p.Ser435Asn
XM_011539734.1:c.1301G>A XP_011538036.1:p.Ser434Asn
NM_001322364.1:c.1358G>A NP_001309293.1:p.Ser453Asn
NM_001322365.1:c.1451G>A NP_001309294.1:p.Ser484Asn
NM_001322366.1:c.1262G>A NP_001309295.1:p.Ser421Asn
NM_001322367.1:c.1250G>A NP_001309296.1:p.Ser417Asn
NM_001358263.1:c.1358G>A MANE Plus Clinical NP_001345192.1:p.Ser453Asn
XM_024447969.1:c.1358G>A XP_024303737.1:p.Ser453Asn
NM_000188.3:c.1346G>A MANE Select NP_000179.2:p.Ser449Asn
NM_001322364.2:c.1358G>A NP_001309293.1:p.Ser453Asn
NM_001322365.2:c.1451G>A NP_001309294.1:p.Ser484Asn
NM_033496.3:c.1343G>A NP_277031.1:p.Ser448Asn
NM_033497.3:c.1358G>A NP_277032.1:p.Ser453Asn
NM_033498.3:c.1358G>A NP_277033.1:p.Ser453Asn