Canonical Allele Identifier: CA3906466
Community Standard Title: NM_015599.3(PGM3):c.1612C>A (p.Pro538Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83169251G>T , CM000668.2:g.83169251G>T GRCh38
NC_000006.11:g.83878970G>T , CM000668.1:g.83878970G>T GRCh37
NC_000006.10:g.83935689G>T NCBI36
NG_034146.1:g.29686C>A
NG_034146.2:g.29650C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015599.3:c.1612C>A (PGM3) MANE Select NP_056414.1:p.Pro538Thr
ENST00000513973.6:c.1612C>A (PGM3) MANE Select ENSP00000424874.1:p.Pro538Thr
NM_001199917.1:c.1696C>A (PGM3) NP_001186846.1:p.Pro566Thr
NM_001199917.2:c.1696C>A (PGM3) NP_001186846.1:p.Pro566Thr
NM_001199918.1:c.*47C>A (PGM3) NP_001186847.1:n.*47C>A
NM_001199918.2:c.*47C>A (PGM3) NP_001186847.1:n.*47C>A
NM_001199919.1:c.1612C>A (PGM3) NP_001186848.1:p.Pro538Thr
NM_001199919.2:c.1612C>A (PGM3) NP_001186848.1:p.Pro538Thr
NM_001367286.1:c.1489C>A (PGM3) NP_001354215.1:p.Pro497Thr
NM_001367287.1:c.1696C>A (PGM3) NP_001354216.1:p.Pro566Thr
NM_015599.2:c.1612C>A (PGM3) NP_056414.1:p.Pro538Thr
NR_159812.1:n.1701C>A (PGM3)
NR_159812.2:n.1701C>A (PGM3)
NR_169791.1:n.8216-227G>T (DOP1A)
ENST00000283977.8:c.1369C>A (PGM3) ENSP00000283977.4:p.Pro457Thr
ENST00000283977.9:c.*47C>A (PGM3) ENSP00000283977.5:n.*47C>A
ENST00000484282.1:n.4355-227G>T (DOP1A)
ENST00000504780.5:c.324C>A (PGM3)
ENST00000504780.6:c.*563C>A (PGM3) ENSP00000421154.2:n.*563C>A
ENST00000505470.6:c.*2373C>A (PGM3) ENSP00000423769.1:n.*2373C>A
ENST00000506587.5:c.1696C>A (PGM3) ENSP00000425809.1:p.Pro566Thr
ENST00000507554.2:c.1612C>A (PGM3) ENSP00000425558.2:p.Pro538Thr
ENST00000508748.6:c.1696C>A (PGM3) ENSP00000424865.2:p.Pro566Thr
ENST00000512866.5:c.1612C>A (PGM3) ENSP00000421565.1:p.Pro538Thr
ENST00000513973.5:c.1612C>A (PGM3) ENSP00000424874.1:p.Pro538Thr
ENST00000616566.4:c.*47C>A (PGM3) ENSP00000477539.1:n.*47C>A
ENST00000616566.5:c.1246C>A (PGM3) ENSP00000477539.2:p.Pro416Thr
ENST00000650640.1:c.*596C>A (PGM3) ENSP00000498423.1:n.*596C>A
ENST00000650642.1:c.1489C>A (PGM3) ENSP00000498516.1:p.Pro497Thr
ENST00000651204.1:c.1108C>A (PGM3)
ENST00000651204.2:c.*350C>A (PGM3) ENSP00000498912.2:n.*350C>A
ENST00000651425.1:c.1369C>A (PGM3) ENSP00000498986.1:p.Pro457Thr
ENST00000651698.1:c.726C>A (PGM3)
ENST00000651698.2:c.*563C>A (PGM3) ENSP00000498398.2:n.*563C>A
ENST00000652222.1:c.1267C>A (PGM3) ENSP00000499141.1:p.Pro423Thr
ENST00000652222.2:c.1513C>A (PGM3) ENSP00000499141.2:p.Pro505Thr
ENST00000698524.1:c.1612C>A (PGM3) ENSP00000513773.1:p.Pro538Thr
ENST00000698525.1:c.*1009C>A (PGM3) ENSP00000513774.1:n.*1009C>A
ENST00000698526.1:c.*1009C>A (PGM3) ENSP00000513775.1:n.*1009C>A
ENST00000698599.1:c.1612C>A (PGM3) ENSP00000513827.1:p.Pro538Thr
ENST00000698600.1:c.*563C>A (PGM3) ENSP00000513828.1:n.*563C>A
ENST00000698601.1:c.*1191C>A (PGM3) ENSP00000513829.1:n.*1191C>A
ENST00000698602.1:c.1612C>A (PGM3) ENSP00000513830.1:p.Pro538Thr
ENST00000698603.1:c.*1388C>A (PGM3) ENSP00000513831.1:n.*1388C>A
ENST00000698604.1:c.*1150C>A (PGM3) ENSP00000513832.1:n.*1150C>A
ENST00000698605.1:c.*1392C>A (PGM3) ENSP00000513833.1:n.*1392C>A
ENST00000698606.1:n.3461C>A (PGM3)
ENST00000698607.1:c.*2037C>A (PGM3) ENSP00000513834.1:n.*2037C>A
ENST00000698608.1:c.1270C>A (PGM3) ENSP00000513835.1:p.Pro424Thr
ENST00000698609.1:c.*2070C>A (PGM3) ENSP00000513836.1:n.*2070C>A
ENST00000698610.1:c.1369C>A (PGM3) ENSP00000513837.1:p.Pro457Thr
ENST00000698611.1:n.5249C>A (PGM3)
ENST00000698612.1:c.1174C>A (PGM3) ENSP00000513838.1:p.Pro392Thr
ENST00000698613.1:c.*1009C>A (PGM3) ENSP00000513839.1:n.*1009C>A
ENST00000698614.1:c.*1544C>A (PGM3) ENSP00000513840.1:n.*1544C>A
ENST00000698615.1:c.*1211C>A (PGM3) ENSP00000513841.1:n.*1211C>A
XM_011535619.2:c.*590-227G>T (DOP1A) XP_011533921.1:n.*590-227G>T
XM_011535901.1:c.1696C>A (PGM3) XP_011534203.1:p.Pro566Thr
XM_011535902.1:c.1696C>A (PGM3) XP_011534204.1:p.Pro566Thr
XM_011535903.1:c.1696C>A (PGM3) XP_011534205.1:p.Pro566Thr
XM_017010559.1:c.*590-227G>T (DOP1A) XP_016866048.1:n.*590-227G>T
XM_017010560.2:c.*590-227G>T (DOP1A) XP_016866049.1:n.*590-227G>T
XM_017010561.1:c.*590-227G>T (DOP1A) XP_016866050.1:n.*590-227G>T
XM_017010562.2:c.*590-227G>T (DOP1A) XP_016866051.1:n.*590-227G>T
XM_017010564.1:c.*590-227G>T (DOP1A) XP_016866053.1:n.*590-227G>T
XM_017010566.1:c.*590-227G>T (DOP1A) XP_016866055.1:n.*590-227G>T
XM_017010570.1:c.*590-227G>T (DOP1A) XP_016866059.1:n.*590-227G>T
XM_017010571.1:c.*590-227G>T (DOP1A) XP_016866060.1:n.*590-227G>T
XM_017010572.1:c.*590-227G>T (DOP1A) XP_016866061.1:n.*590-227G>T
XM_017010935.1:c.1369C>A (PGM3) XP_016866424.1:p.Pro457Thr
XM_017010937.1:c.1246C>A (PGM3) XP_016866426.1:p.Pro416Thr
XM_024446459.1:c.1489C>A (PGM3) XP_024302227.1:p.Pro497Thr
XM_024446460.1:c.1696C>A (PGM3) XP_024302228.1:p.Pro566Thr
XR_001743468.2:n.1496C>A (PGM3)
XR_942476.1:n.1853C>A (PGM3)
XR_942477.1:n.1838C>A (PGM3)
XR_942478.1:n.1702C>A (PGM3)
XR_942478.3:n.1702C>A (PGM3)
XR_942479.1:n.1728C>A (PGM3)
XR_942480.1:n.1496C>A (PGM3)
XR_942480.2:n.1496C>A (PGM3)