Canonical Allele Identifier: CA2618528688
Gene: PFKM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48145134G>A , CM000674.2:g.48145134G>A GRCh38
NC_000012.11:g.48538917G>A , CM000674.1:g.48538917G>A GRCh37
NC_000012.10:g.46825184G>A NCBI36
NG_016199.1:g.44262G>A
NG_016199.2:g.44882G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000550257.7:c.2314+4G>A ENSP00000447997.3:n.2314+4G>A
ENST00000340802.12:c.2305+4G>A ENSP00000345771.6:n.2305+4G>A
ENST00000359794.11:c.2092+4G>A MANE Select ENSP00000352842.5:n.2092+4G>A
ENST00000549941.7:c.1834+4G>A ENSP00000446829.3:n.1834+4G>A
ENST00000550345.6:c.2092+4G>A ENSP00000450369.2:n.2092+4G>A
ENST00000550924.6:c.2092+4G>A ENSP00000446945.2:n.2092+4G>A
ENST00000551339.6:c.2092+4G>A ENSP00000448253.2:n.2092+4G>A
ENST00000642730.1:c.2401+4G>A ENSP00000496597.1:n.2401+4G>A
ENST00000312352.11:c.2092+4G>A ENSP00000309438.7:n.2092+4G>A
ENST00000340802.10:c.2305+4G>A ENSP00000345771.6:n.2305+4G>A
ENST00000359794.9:c.2092+4G>A ENSP00000352842.5:n.2092+4G>A
ENST00000546964.5:n.2416+4G>A
ENST00000547581.5:c.*2360+4G>A ENSP00000447992.1:n.*2360+4G>A
ENST00000547587.5:c.2092+4G>A ENSP00000449426.1:n.2092+4G>A
ENST00000551804.5:c.1999+4G>A ENSP00000448177.1:n.1999+4G>A
NM_000289.5:c.2092+4G>A NP_000280.1:n.2092+4G>A
NM_001166686.1:c.2305+4G>A NP_001160158.1:n.2305+4G>A
NM_001166687.1:c.2092+4G>A NP_001160159.1:n.2092+4G>A
NM_001166688.1:c.2092+4G>A NP_001160160.1:n.2092+4G>A
XM_005268974.1:c.2401+4G>A XP_005269031.1:n.2401+4G>A
XM_005268975.1:c.2401+4G>A XP_005269032.1:n.2401+4G>A
XM_005268976.2:c.2401+4G>A XP_005269033.1:n.2401+4G>A
XM_005268977.1:c.2305+4G>A XP_005269034.1:n.2305+4G>A
XM_005268978.2:c.2305+4G>A XP_005269035.1:n.2305+4G>A
XM_005268979.1:c.2305+4G>A XP_005269036.1:n.2305+4G>A
XM_011538487.1:c.2308+4G>A XP_011536789.1:n.2308+4G>A
XM_011538488.1:c.2092+4G>A XP_011536790.1:n.2092+4G>A
NM_000289.6:c.2092+4G>A MANE Select NP_000280.1:n.2092+4G>A
NM_001166686.2:c.2305+4G>A NP_001160158.1:n.2305+4G>A
NM_001354735.1:c.2401+4G>A NP_001341664.1:n.2401+4G>A
NM_001354736.1:c.2401+4G>A NP_001341665.1:n.2401+4G>A
NM_001354737.1:c.2305+4G>A NP_001341666.1:n.2305+4G>A
NM_001354738.1:c.2305+4G>A NP_001341667.1:n.2305+4G>A
NM_001354739.1:c.2305+4G>A NP_001341668.1:n.2305+4G>A
NM_001354740.1:c.2236+4G>A NP_001341669.1:n.2236+4G>A
NM_001354741.1:c.2116+4G>A NP_001341670.1:n.2116+4G>A
NM_001354742.1:c.2092+4G>A NP_001341671.1:n.2092+4G>A
NM_001354743.1:c.2092+4G>A NP_001341672.1:n.2092+4G>A
NM_001354744.1:c.2092+4G>A NP_001341673.1:n.2092+4G>A
NM_001354745.1:c.2005+4G>A NP_001341674.1:n.2005+4G>A
NM_001354746.1:c.1966+4G>A NP_001341675.1:n.1966+4G>A
NM_001354747.1:c.1942+4G>A NP_001341676.1:n.1942+4G>A
NM_001354748.1:c.1942+4G>A NP_001341677.1:n.1942+4G>A
NM_001363619.1:c.1999+4G>A NP_001350548.1:n.1999+4G>A
NR_148954.1:n.2529+4G>A
NR_148955.1:n.3165+4G>A
NR_148956.1:n.2455+4G>A
NR_148957.1:n.2684+4G>A
NR_148958.1:n.2432+4G>A
NR_148959.1:n.2358+4G>A
XM_005268976.3:c.2401+4G>A XP_005269033.1:n.2401+4G>A
XM_017019469.1:c.2212+4G>A XP_016874958.1:n.2212+4G>A
XM_024449020.1:c.2314+4G>A XP_024304788.1:n.2314+4G>A
XM_024449021.1:c.2191+4G>A XP_024304789.1:n.2191+4G>A
XM_024449022.1:c.2092+4G>A XP_024304790.1:n.2092+4G>A
NM_001166687.2:c.2092+4G>A NP_001160159.1:n.2092+4G>A
NM_001166688.2:c.2092+4G>A NP_001160160.1:n.2092+4G>A
NM_001354741.2:c.2116+4G>A NP_001341670.1:n.2116+4G>A
NM_001354742.2:c.2092+4G>A NP_001341671.1:n.2092+4G>A
NM_001354743.2:c.2092+4G>A NP_001341672.1:n.2092+4G>A
NM_001354744.2:c.2092+4G>A NP_001341673.1:n.2092+4G>A
NM_001354745.2:c.2005+4G>A NP_001341674.1:n.2005+4G>A
NM_001354746.2:c.1966+4G>A NP_001341675.1:n.1966+4G>A
NM_001354747.2:c.1942+4G>A NP_001341676.1:n.1942+4G>A
NM_001354748.2:c.1942+4G>A NP_001341677.1:n.1942+4G>A
NM_001363619.2:c.1999+4G>A NP_001350548.1:n.1999+4G>A
NR_148954.2:n.2395+4G>A
NR_148956.2:n.2321+4G>A
NR_148957.2:n.2550+4G>A
NR_148958.2:n.2298+4G>A
NR_148959.2:n.2224+4G>A