Canonical Allele Identifier: CA384555937
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145130G>A , CM000674.2:g.48145130G>A GRCh38
NC_000012.11:g.48538913G>A , CM000674.1:g.48538913G>A GRCh37
NC_000012.10:g.46825180G>A NCBI36
NG_016199.1:g.44258G>A
NG_016199.2:g.44878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2314G>A ENSP00000447997.3:p.Gly772Arg
ENST00000340802.12:c.2305G>A ENSP00000345771.6:p.Gly769Arg
ENST00000359794.11:c.2092G>A MANE Select ENSP00000352842.5:p.Gly698Arg
ENST00000549941.7:c.1834G>A ENSP00000446829.3:p.Gly612Arg
ENST00000550345.6:c.2092G>A ENSP00000450369.2:p.Gly698Arg
ENST00000550924.6:c.2092G>A ENSP00000446945.2:p.Gly698Arg
ENST00000551339.6:c.2092G>A ENSP00000448253.2:p.Gly698Arg
ENST00000642730.1:c.2401G>A ENSP00000496597.1:p.Gly801Arg
ENST00000312352.11:c.2092G>A ENSP00000309438.7:p.Gly698Arg
ENST00000340802.10:c.2305G>A ENSP00000345771.6:p.Gly769Arg
ENST00000359794.9:c.2092G>A ENSP00000352842.5:p.Gly698Arg
ENST00000546964.5:n.2416G>A
ENST00000547581.5:c.*2360G>A ENSP00000447992.1:n.*2360G>A
ENST00000547587.5:c.2092G>A ENSP00000449426.1:p.Gly698Arg
ENST00000551804.5:c.1999G>A ENSP00000448177.1:p.Gly667Arg
NM_000289.5:c.2092G>A NP_000280.1:p.Gly698Arg
NM_001166686.1:c.2305G>A NP_001160158.1:p.Gly769Arg
NM_001166687.1:c.2092G>A NP_001160159.1:p.Gly698Arg
NM_001166688.1:c.2092G>A NP_001160160.1:p.Gly698Arg
XM_005268974.1:c.2401G>A XP_005269031.1:p.Gly801Arg
XM_005268975.1:c.2401G>A XP_005269032.1:p.Gly801Arg
XM_005268976.2:c.2401G>A XP_005269033.1:p.Gly801Arg
XM_005268977.1:c.2305G>A XP_005269034.1:p.Gly769Arg
XM_005268978.2:c.2305G>A XP_005269035.1:p.Gly769Arg
XM_005268979.1:c.2305G>A XP_005269036.1:p.Gly769Arg
XM_011538487.1:c.2308G>A XP_011536789.1:p.Gly770Arg
XM_011538488.1:c.2092G>A XP_011536790.1:p.Gly698Arg
NM_000289.6:c.2092G>A MANE Select NP_000280.1:p.Gly698Arg
NM_001166686.2:c.2305G>A NP_001160158.1:p.Gly769Arg
NM_001354735.1:c.2401G>A NP_001341664.1:p.Gly801Arg
NM_001354736.1:c.2401G>A NP_001341665.1:p.Gly801Arg
NM_001354737.1:c.2305G>A NP_001341666.1:p.Gly769Arg
NM_001354738.1:c.2305G>A NP_001341667.1:p.Gly769Arg
NM_001354739.1:c.2305G>A NP_001341668.1:p.Gly769Arg
NM_001354740.1:c.2236G>A NP_001341669.1:p.Gly746Arg
NM_001354741.1:c.2116G>A NP_001341670.1:p.Gly706Arg
NM_001354742.1:c.2092G>A NP_001341671.1:p.Gly698Arg
NM_001354743.1:c.2092G>A NP_001341672.1:p.Gly698Arg
NM_001354744.1:c.2092G>A NP_001341673.1:p.Gly698Arg
NM_001354745.1:c.2005G>A NP_001341674.1:p.Gly669Arg
NM_001354746.1:c.1966G>A NP_001341675.1:p.Gly656Arg
NM_001354747.1:c.1942G>A NP_001341676.1:p.Gly648Arg
NM_001354748.1:c.1942G>A NP_001341677.1:p.Gly648Arg
NM_001363619.1:c.1999G>A NP_001350548.1:p.Gly667Arg
NR_148954.1:n.2529G>A
NR_148955.1:n.3165G>A
NR_148956.1:n.2455G>A
NR_148957.1:n.2684G>A
NR_148958.1:n.2432G>A
NR_148959.1:n.2358G>A
XM_005268976.3:c.2401G>A XP_005269033.1:p.Gly801Arg
XM_017019469.1:c.2212G>A XP_016874958.1:p.Gly738Arg
XM_024449020.1:c.2314G>A XP_024304788.1:p.Gly772Arg
XM_024449021.1:c.2191G>A XP_024304789.1:p.Gly731Arg
XM_024449022.1:c.2092G>A XP_024304790.1:p.Gly698Arg
NM_001166687.2:c.2092G>A NP_001160159.1:p.Gly698Arg
NM_001166688.2:c.2092G>A NP_001160160.1:p.Gly698Arg
NM_001354741.2:c.2116G>A NP_001341670.1:p.Gly706Arg
NM_001354742.2:c.2092G>A NP_001341671.1:p.Gly698Arg
NM_001354743.2:c.2092G>A NP_001341672.1:p.Gly698Arg
NM_001354744.2:c.2092G>A NP_001341673.1:p.Gly698Arg
NM_001354745.2:c.2005G>A NP_001341674.1:p.Gly669Arg
NM_001354746.2:c.1966G>A NP_001341675.1:p.Gly656Arg
NM_001354747.2:c.1942G>A NP_001341676.1:p.Gly648Arg
NM_001354748.2:c.1942G>A NP_001341677.1:p.Gly648Arg
NM_001363619.2:c.1999G>A NP_001350548.1:p.Gly667Arg
NR_148954.2:n.2395G>A
NR_148956.2:n.2321G>A
NR_148957.2:n.2550G>A
NR_148958.2:n.2298G>A
NR_148959.2:n.2224G>A