Canonical Allele Identifier: CA10632878
Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 308946
dbSNP Id: rs12306290

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48119303T>G , CM000674.2:g.48119303T>G GRCh38
NC_000012.11:g.48513086T>G , CM000674.1:g.48513086T>G GRCh37
NC_000012.10:g.46799353T>G NCBI36
NG_016199.1:g.18431T>G
NG_016199.2:g.19051T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000550257.7:c.215-3464T>G ENSP00000447997.3:n.215-3464T>G
ENST00000340802.12:c.206-3464T>G ENSP00000345771.6:n.206-3464T>G
ENST00000549941.7:c.-8-3464T>G ENSP00000446829.3:n.-8-3464T>G
ENST00000550257.6:c.101-3464T>G ENSP00000447997.2:n.101-3464T>G
ENST00000550345.6:c.-8-3464T>G ENSP00000450369.2:n.-8-3464T>G
ENST00000550924.6:c.-8-3464T>G ENSP00000446945.2:n.-8-3464T>G
ENST00000642730.1:c.301+726T>G ENSP00000496597.1:n.301+726T>G
ENST00000340802.10:c.206-3464T>G ENSP00000345771.6:n.206-3464T>G
ENST00000359794.9:c.-112T>G ENSP00000352842.5:n.-112T>G
ENST00000546755.5:c.301+726T>G ENSP00000450173.1:n.301+726T>G
ENST00000547066.5:c.-112T>G ENSP00000448318.1:n.-112T>G
ENST00000547581.5:c.301+726T>G ENSP00000447992.1:n.301+726T>G
ENST00000548288.5:c.206-3464T>G ENSP00000448018.1:n.206-3464T>G
ENST00000549003.5:c.-8-3464T>G ENSP00000449835.1:n.-8-3464T>G
ENST00000549366.5:c.301+726T>G ENSP00000449622.1:n.301+726T>G
ENST00000549941.5:c.92-3464T>G ENSP00000446829.1:n.92-3464T>G
ENST00000550257.5:c.215-3464T>G ENSP00000447997.1:n.215-3464T>G
ENST00000550345.5:c.-8-3464T>G ENSP00000450369.1:n.-8-3464T>G
ENST00000550924.5:c.-8-3464T>G ENSP00000446945.1:n.-8-3464T>G
ENST00000552792.5:c.206-3464T>G ENSP00000448940.1:n.206-3464T>G
NM_000289.5:c.-112T>G NP_000280.1:n.-112T>G
NM_001166686.1:c.206-3464T>G NP_001160158.1:n.206-3464T>G
XM_005268974.1:c.301+726T>G XP_005269031.1:n.301+726T>G
XM_005268975.1:c.301+726T>G XP_005269032.1:n.301+726T>G
XM_005268976.2:c.301+726T>G XP_005269033.1:n.301+726T>G
XM_005268977.1:c.206-3464T>G XP_005269034.1:n.206-3464T>G
XM_005268978.2:c.206-3464T>G XP_005269035.1:n.206-3464T>G
XM_005268979.1:c.206-3464T>G XP_005269036.1:n.206-3464T>G
XM_011538487.1:c.301+726T>G XP_011536789.1:n.301+726T>G
XM_011538488.1:c.-8-3464T>G XP_011536790.1:n.-8-3464T>G
NM_001166686.2:c.206-3464T>G NP_001160158.1:n.206-3464T>G
NM_001354735.1:c.301+726T>G NP_001341664.1:n.301+726T>G
NM_001354736.1:c.301+726T>G NP_001341665.1:n.301+726T>G
NM_001354737.1:c.206-3464T>G NP_001341666.1:n.206-3464T>G
NM_001354738.1:c.206-3464T>G NP_001341667.1:n.206-3464T>G
NM_001354739.1:c.206-3464T>G NP_001341668.1:n.206-3464T>G
NM_001354740.1:c.-24T>G NP_001341669.1:n.-24T>G
NM_001354741.1:c.16+726T>G NP_001341670.1:n.16+726T>G
NM_001354742.1:c.-8-3464T>G NP_001341671.1:n.-8-3464T>G
NM_001354743.1:c.-8-3464T>G NP_001341672.1:n.-8-3464T>G
NM_001354744.1:c.-160T>G NP_001341673.1:n.-160T>G
NM_001354745.1:c.-437T>G NP_001341674.1:n.-437T>G
NM_001354746.1:c.-112T>G NP_001341675.1:n.-112T>G
NM_001354747.1:c.-84-3464T>G NP_001341676.1:n.-84-3464T>G
NM_001354748.1:c.-188T>G NP_001341677.1:n.-188T>G
NM_001363619.1:c.-112T>G NP_001350548.1:n.-112T>G
NR_148954.1:n.74T>G
NR_148955.1:n.575+726T>G
NR_148956.1:n.74T>G
NR_148957.1:n.74T>G
NR_148958.1:n.74T>G
NR_148959.1:n.74T>G
XM_005268976.3:c.301+726T>G XP_005269033.1:n.301+726T>G
XM_017019469.1:c.206-3464T>G XP_016874958.1:n.206-3464T>G
XM_024449020.1:c.215-3464T>G XP_024304788.1:n.215-3464T>G
XM_024449021.1:c.92-3464T>G XP_024304789.1:n.92-3464T>G
NM_001354741.2:c.16+726T>G NP_001341670.1:n.16+726T>G
NM_001354742.2:c.-8-3464T>G NP_001341671.1:n.-8-3464T>G
NM_001354743.2:c.-8-3464T>G NP_001341672.1:n.-8-3464T>G
NM_001354747.2:c.-84-3464T>G NP_001341676.1:n.-84-3464T>G