Canonical Allele Identifier: CA384541368
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48132868G>A , CM000674.2:g.48132868G>A GRCh38
NC_000012.11:g.48526651G>A , CM000674.1:g.48526651G>A GRCh37
NC_000012.10:g.46812918G>A NCBI36
NG_016199.1:g.31996G>A
NG_016199.2:g.32616G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.460G>A ENSP00000447997.3:p.Gly154Arg
ENST00000340802.12:c.451G>A ENSP00000345771.6:p.Gly151Arg
ENST00000359794.11:c.238G>A MANE Select ENSP00000352842.5:p.Gly80Arg
ENST00000549941.7:c.238G>A ENSP00000446829.3:p.Gly80Arg
ENST00000550345.6:c.238G>A ENSP00000450369.2:p.Gly80Arg
ENST00000550924.6:c.238G>A ENSP00000446945.2:p.Gly80Arg
ENST00000551339.6:c.238G>A ENSP00000448253.2:p.Gly80Arg
ENST00000642730.1:c.547G>A ENSP00000496597.1:p.Gly183Arg
ENST00000312352.11:c.238G>A ENSP00000309438.7:p.Gly80Arg
ENST00000340802.10:c.451G>A ENSP00000345771.6:p.Gly151Arg
ENST00000359794.9:c.238G>A ENSP00000352842.5:p.Gly80Arg
ENST00000546465.1:c.86-7903G>A ENSP00000446519.1:n.86-7903G>A
ENST00000546964.5:n.310G>A
ENST00000547581.5:c.*254G>A ENSP00000447992.1:n.*254G>A
ENST00000547587.5:c.238G>A ENSP00000449426.1:p.Gly80Arg
ENST00000548345.5:c.238G>A ENSP00000449269.1:p.Gly80Arg
ENST00000549003.5:c.238G>A ENSP00000449835.1:p.Gly80Arg
ENST00000549022.5:c.238G>A ENSP00000446805.1:p.Gly80Arg
ENST00000549941.5:c.337G>A ENSP00000446829.1:p.Gly113Arg
ENST00000550345.5:c.238G>A ENSP00000450369.1:p.Gly80Arg
ENST00000550924.5:c.238G>A ENSP00000446945.1:p.Gly80Arg
ENST00000551339.5:c.238G>A ENSP00000448253.1:p.Gly80Arg
ENST00000551485.5:c.*122G>A ENSP00000448315.1:n.*122G>A
ENST00000551804.5:c.238G>A ENSP00000448177.1:p.Gly80Arg
ENST00000552989.5:c.86-1371G>A ENSP00000447774.1:n.86-1371G>A
NM_000289.5:c.238G>A NP_000280.1:p.Gly80Arg
NM_001166686.1:c.451G>A NP_001160158.1:p.Gly151Arg
NM_001166687.1:c.238G>A NP_001160159.1:p.Gly80Arg
NM_001166688.1:c.238G>A NP_001160160.1:p.Gly80Arg
XM_005268974.1:c.547G>A XP_005269031.1:p.Gly183Arg
XM_005268975.1:c.547G>A XP_005269032.1:p.Gly183Arg
XM_005268976.2:c.547G>A XP_005269033.1:p.Gly183Arg
XM_005268977.1:c.451G>A XP_005269034.1:p.Gly151Arg
XM_005268978.2:c.451G>A XP_005269035.1:p.Gly151Arg
XM_005268979.1:c.451G>A XP_005269036.1:p.Gly151Arg
XM_011538487.1:c.547G>A XP_011536789.1:p.Gly183Arg
XM_011538488.1:c.238G>A XP_011536790.1:p.Gly80Arg
NM_000289.6:c.238G>A MANE Select NP_000280.1:p.Gly80Arg
NM_001166686.2:c.451G>A NP_001160158.1:p.Gly151Arg
NM_001354735.1:c.547G>A NP_001341664.1:p.Gly183Arg
NM_001354736.1:c.547G>A NP_001341665.1:p.Gly183Arg
NM_001354737.1:c.451G>A NP_001341666.1:p.Gly151Arg
NM_001354738.1:c.451G>A NP_001341667.1:p.Gly151Arg
NM_001354739.1:c.451G>A NP_001341668.1:p.Gly151Arg
NM_001354740.1:c.382G>A NP_001341669.1:p.Gly128Arg
NM_001354741.1:c.262G>A NP_001341670.1:p.Gly88Arg
NM_001354742.1:c.238G>A NP_001341671.1:p.Gly80Arg
NM_001354743.1:c.238G>A NP_001341672.1:p.Gly80Arg
NM_001354744.1:c.238G>A NP_001341673.1:p.Gly80Arg
NM_001354745.1:c.151G>A NP_001341674.1:p.Gly51Arg
NM_001354746.1:c.238G>A NP_001341675.1:p.Gly80Arg
NM_001354747.1:c.88G>A NP_001341676.1:p.Gly30Arg
NM_001354748.1:c.88G>A NP_001341677.1:p.Gly30Arg
NM_001363619.1:c.238G>A NP_001350548.1:p.Gly80Arg
NR_148954.1:n.423G>A
NR_148955.1:n.1059G>A
NR_148956.1:n.349G>A
NR_148957.1:n.423G>A
NR_148958.1:n.423G>A
NR_148959.1:n.349G>A
XM_005268976.3:c.547G>A XP_005269033.1:p.Gly183Arg
XM_017019469.1:c.451G>A XP_016874958.1:p.Gly151Arg
XM_024449020.1:c.460G>A XP_024304788.1:p.Gly154Arg
XM_024449021.1:c.337G>A XP_024304789.1:p.Gly113Arg
XM_024449022.1:c.238G>A XP_024304790.1:p.Gly80Arg
NM_001166687.2:c.238G>A NP_001160159.1:p.Gly80Arg
NM_001166688.2:c.238G>A NP_001160160.1:p.Gly80Arg
NM_001354741.2:c.262G>A NP_001341670.1:p.Gly88Arg
NM_001354742.2:c.238G>A NP_001341671.1:p.Gly80Arg
NM_001354743.2:c.238G>A NP_001341672.1:p.Gly80Arg
NM_001354744.2:c.238G>A NP_001341673.1:p.Gly80Arg
NM_001354745.2:c.151G>A NP_001341674.1:p.Gly51Arg
NM_001354746.2:c.238G>A NP_001341675.1:p.Gly80Arg
NM_001354747.2:c.88G>A NP_001341676.1:p.Gly30Arg
NM_001354748.2:c.88G>A NP_001341677.1:p.Gly30Arg
NM_001363619.2:c.238G>A NP_001350548.1:p.Gly80Arg
NR_148954.2:n.289G>A
NR_148956.2:n.215G>A
NR_148957.2:n.289G>A
NR_148958.2:n.289G>A
NR_148959.2:n.215G>A