Canonical Allele Identifier: CA156418
Gene: PGM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 133320
dbSNP Id: rs267608260

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83188755A>G , CM000668.2:g.83188755A>G GRCh38
NC_000006.11:g.83898474A>G , CM000668.1:g.83898474A>G GRCh37
NC_000006.10:g.83955193A>G NCBI36
NG_034146.1:g.10182T>C
NG_034146.2:g.10146T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000504780.6:c.248T>C ENSP00000421154.2:p.Leu83Ser
ENST00000505470.6:c.*28T>C ENSP00000423769.1:n.*28T>C
ENST00000507554.2:c.248T>C ENSP00000425558.2:p.Leu83Ser
ENST00000508748.6:c.332T>C ENSP00000424865.2:p.Leu111Ser
ENST00000651204.2:c.248T>C ENSP00000498912.2:p.Leu83Ser
ENST00000651698.2:c.248T>C ENSP00000498398.2:p.Leu83Ser
ENST00000652222.2:c.248T>C ENSP00000499141.2:p.Leu83Ser
ENST00000698524.1:c.248T>C ENSP00000513773.1:p.Leu83Ser
ENST00000698525.1:c.204+2054T>C ENSP00000513774.1:n.204+2054T>C
ENST00000698526.1:c.248T>C ENSP00000513775.1:p.Leu83Ser
ENST00000698599.1:c.248T>C ENSP00000513827.1:p.Leu83Ser
ENST00000698600.1:c.248T>C ENSP00000513828.1:p.Leu83Ser
ENST00000698601.1:c.248T>C ENSP00000513829.1:p.Leu83Ser
ENST00000698602.1:c.248T>C ENSP00000513830.1:p.Leu83Ser
ENST00000698603.1:c.*28T>C ENSP00000513831.1:n.*28T>C
ENST00000698604.1:c.*28T>C ENSP00000513832.1:n.*28T>C
ENST00000698605.1:c.*28T>C ENSP00000513833.1:n.*28T>C
ENST00000698606.1:n.2339T>C
ENST00000698607.1:c.248T>C ENSP00000513834.1:p.Leu83Ser
ENST00000698608.1:c.5T>C ENSP00000513835.1:p.Leu2Ser
ENST00000698609.1:c.248T>C ENSP00000513836.1:p.Leu83Ser
ENST00000698610.1:c.5T>C ENSP00000513837.1:p.Leu2Ser
ENST00000698611.1:n.2347T>C
ENST00000698612.1:c.248T>C ENSP00000513838.1:p.Leu83Ser
ENST00000698613.1:c.248T>C ENSP00000513839.1:p.Leu83Ser
ENST00000698614.1:c.248T>C ENSP00000513840.1:p.Leu83Ser
ENST00000698615.1:c.205-1680T>C ENSP00000513841.1:n.205-1680T>C
ENST00000698616.1:n.337T>C
ENST00000698617.1:n.474T>C
ENST00000698618.1:c.*28T>C ENSP00000513842.1:n.*28T>C
ENST00000698619.1:n.337T>C
ENST00000698620.1:c.248T>C ENSP00000513843.1:p.Leu83Ser
ENST00000698621.1:n.337T>C
ENST00000698622.1:n.337T>C
ENST00000698623.1:n.327T>C
ENST00000283977.9:c.5T>C ENSP00000283977.5:p.Leu2Ser
ENST00000509219.2:c.248T>C ENSP00000423389.2:p.Leu83Ser
ENST00000513973.6:c.248T>C MANE Select ENSP00000424874.1:p.Leu83Ser
ENST00000616566.5:c.5T>C ENSP00000477539.2:p.Leu2Ser
ENST00000650640.1:c.248T>C ENSP00000498423.1:p.Leu83Ser
ENST00000650642.1:c.248T>C ENSP00000498516.1:p.Leu83Ser
ENST00000651204.1:c.208T>C
ENST00000651425.1:c.5T>C ENSP00000498986.1:p.Leu2Ser
ENST00000652222.1:c.2T>C ENSP00000499141.1:p.Leu1Ser
ENST00000652468.1:c.248T>C ENSP00000499112.1:p.Leu83Ser
ENST00000283977.8:c.5T>C ENSP00000283977.4:p.Leu2Ser
ENST00000503094.1:c.332T>C ENSP00000422362.1:p.Leu111Ser
ENST00000505470.5:c.*28T>C ENSP00000423769.1:n.*28T>C
ENST00000506587.5:c.332T>C ENSP00000425809.1:p.Leu111Ser
ENST00000507554.1:c.248T>C ENSP00000425558.1:p.Leu83Ser
ENST00000508748.5:c.332T>C ENSP00000424865.1:p.Leu111Ser
ENST00000510258.1:c.5T>C ENSP00000427420.1:p.Leu2Ser
ENST00000512866.5:c.248T>C ENSP00000421565.1:p.Leu83Ser
ENST00000513973.5:c.248T>C ENSP00000424874.1:p.Leu83Ser
ENST00000616566.4:c.5T>C ENSP00000477539.1:p.Leu2Ser
NM_001199917.1:c.332T>C NP_001186846.1:p.Leu111Ser
NM_001199918.1:c.5T>C NP_001186847.1:p.Leu2Ser
NM_001199919.1:c.248T>C NP_001186848.1:p.Leu83Ser
NM_015599.2:c.248T>C NP_056414.1:p.Leu83Ser
XM_011535901.1:c.332T>C XP_011534203.1:p.Leu111Ser
XM_011535902.1:c.332T>C XP_011534204.1:p.Leu111Ser
XM_011535903.1:c.332T>C XP_011534205.1:p.Leu111Ser
XR_942476.1:n.489T>C
XR_942477.1:n.474T>C
XR_942478.1:n.338T>C
XR_942479.1:n.364T>C
XR_942480.1:n.132T>C
XM_017010935.1:c.5T>C XP_016866424.1:p.Leu2Ser
XM_017010937.1:c.5T>C XP_016866426.1:p.Leu2Ser
XM_024446459.1:c.248T>C XP_024302227.1:p.Leu83Ser
XM_024446460.1:c.332T>C XP_024302228.1:p.Leu111Ser
XR_001743468.2:n.132T>C
XR_942478.3:n.338T>C
XR_942480.2:n.132T>C
NM_001199917.2:c.332T>C NP_001186846.1:p.Leu111Ser
NM_001367286.1:c.248T>C NP_001354215.1:p.Leu83Ser
NM_001367287.1:c.332T>C NP_001354216.1:p.Leu111Ser
NM_015599.3:c.248T>C MANE Select NP_056414.1:p.Leu83Ser
NR_159812.1:n.337T>C
NM_001199918.2:c.5T>C NP_001186847.1:p.Leu2Ser
NM_001199919.2:c.248T>C NP_001186848.1:p.Leu83Ser
NR_159812.2:n.337T>C