Canonical Allele Identifier: CA3906509
Community Standard Title: NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83170370G>A , CM000668.2:g.83170370G>A GRCh38
NC_000006.11:g.83880089G>A , CM000668.1:g.83880089G>A GRCh37
NC_000006.10:g.83936808G>A NCBI36
NG_034146.1:g.28567C>T
NG_034146.2:g.28531C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015599.3:c.1474C>T (PGM3) MANE Select NP_056414.1:p.Arg492Ter
ENST00000513973.6:c.1474C>T (PGM3) MANE Select ENSP00000424874.1:p.Arg492Ter
NM_001199917.1:c.1558C>T (PGM3) NP_001186846.1:p.Arg520Ter
NM_001199917.2:c.1558C>T (PGM3) NP_001186846.1:p.Arg520Ter
NM_001199918.1:c.1231C>T (PGM3) NP_001186847.1:p.Arg411Ter
NM_001199918.2:c.1231C>T (PGM3) NP_001186847.1:p.Arg411Ter
NM_001199919.1:c.1474C>T (PGM3) NP_001186848.1:p.Arg492Ter
NM_001199919.2:c.1474C>T (PGM3) NP_001186848.1:p.Arg492Ter
NM_001367286.1:c.1351C>T (PGM3) NP_001354215.1:p.Arg451Ter
NM_001367287.1:c.1558C>T (PGM3) NP_001354216.1:p.Arg520Ter
NM_015599.2:c.1474C>T (PGM3) NP_056414.1:p.Arg492Ter
NR_159812.1:n.1563C>T (PGM3)
NR_159812.2:n.1563C>T (PGM3)
NR_169791.1:n.8354G>A (DOP1A)
ENST00000283977.8:c.1231C>T (PGM3) ENSP00000283977.4:p.Arg411Ter
ENST00000283977.9:c.1231C>T (PGM3) ENSP00000283977.5:p.Arg411Ter
ENST00000484282.1:n.4493G>A (DOP1A)
ENST00000504780.5:c.186C>T (PGM3)
ENST00000504780.6:c.*425C>T (PGM3) ENSP00000421154.2:n.*425C>T
ENST00000505470.6:c.*1254C>T (PGM3) ENSP00000423769.1:n.*1254C>T
ENST00000506587.5:c.1558C>T (PGM3) ENSP00000425809.1:p.Arg520Ter
ENST00000507554.2:c.1474C>T (PGM3) ENSP00000425558.2:p.Arg492Ter
ENST00000508748.6:c.1558C>T (PGM3) ENSP00000424865.2:p.Arg520Ter
ENST00000509219.1:c.367C>T (PGM3) ENSP00000423389.1:p.Arg123Ter
ENST00000509219.2:c.1474C>T (PGM3) ENSP00000423389.2:p.Arg492Ter
ENST00000512866.5:c.1474C>T (PGM3) ENSP00000421565.1:p.Arg492Ter
ENST00000513973.5:c.1474C>T (PGM3) ENSP00000424874.1:p.Arg492Ter
ENST00000616566.4:c.1231C>T (PGM3) ENSP00000477539.1:p.Arg411Ter
ENST00000616566.5:c.1108C>T (PGM3) ENSP00000477539.2:p.Arg370Ter
ENST00000650640.1:c.*458C>T (PGM3) ENSP00000498423.1:n.*458C>T
ENST00000650642.1:c.1351C>T (PGM3) ENSP00000498516.1:p.Arg451Ter
ENST00000651204.1:c.970C>T (PGM3)
ENST00000651204.2:c.*212C>T (PGM3) ENSP00000498912.2:n.*212C>T
ENST00000651425.1:c.1231C>T (PGM3) ENSP00000498986.1:p.Arg411Ter
ENST00000651698.1:c.588C>T (PGM3)
ENST00000651698.2:c.*425C>T (PGM3) ENSP00000498398.2:n.*425C>T
ENST00000652222.1:c.1129C>T (PGM3) ENSP00000499141.1:p.Arg377Ter
ENST00000652222.2:c.1375C>T (PGM3) ENSP00000499141.2:p.Arg459Ter
ENST00000652468.1:c.1474C>T (PGM3) ENSP00000499112.1:p.Arg492Ter
ENST00000698524.1:c.1474C>T (PGM3) ENSP00000513773.1:p.Arg492Ter
ENST00000698525.1:c.550C>T (PGM3) ENSP00000513774.1:p.Arg184Ter
ENST00000698526.1:c.1474C>T (PGM3) ENSP00000513775.1:p.Arg492Ter
ENST00000698599.1:c.1474C>T (PGM3) ENSP00000513827.1:p.Arg492Ter
ENST00000698600.1:c.*425C>T (PGM3) ENSP00000513828.1:n.*425C>T
ENST00000698601.1:c.*1053C>T (PGM3) ENSP00000513829.1:n.*1053C>T
ENST00000698602.1:c.1474C>T (PGM3) ENSP00000513830.1:p.Arg492Ter
ENST00000698603.1:c.*1250C>T (PGM3) ENSP00000513831.1:n.*1250C>T
ENST00000698604.1:c.*1012C>T (PGM3) ENSP00000513832.1:n.*1012C>T
ENST00000698605.1:c.*1254C>T (PGM3) ENSP00000513833.1:n.*1254C>T
ENST00000698606.1:n.3323C>T (PGM3)
ENST00000698607.1:c.*1899C>T (PGM3) ENSP00000513834.1:n.*1899C>T
ENST00000698608.1:c.1132C>T (PGM3) ENSP00000513835.1:p.Arg378Ter
ENST00000698609.1:c.*1932C>T (PGM3) ENSP00000513836.1:n.*1932C>T
ENST00000698610.1:c.1231C>T (PGM3) ENSP00000513837.1:p.Arg411Ter
ENST00000698611.1:n.5111C>T (PGM3)
ENST00000698612.1:c.1036C>T (PGM3) ENSP00000513838.1:p.Arg346Ter
ENST00000698613.1:c.1375C>T (PGM3) ENSP00000513839.1:p.Arg459Ter
ENST00000698614.1:c.*425C>T (PGM3) ENSP00000513840.1:n.*425C>T
ENST00000698615.1:c.*1073C>T (PGM3) ENSP00000513841.1:n.*1073C>T
XM_011535619.2:c.*728G>A (DOP1A) XP_011533921.1:n.*728G>A
XM_011535901.1:c.1558C>T (PGM3) XP_011534203.1:p.Arg520Ter
XM_011535902.1:c.1558C>T (PGM3) XP_011534204.1:p.Arg520Ter
XM_011535903.1:c.1558C>T (PGM3) XP_011534205.1:p.Arg520Ter
XM_017010559.1:c.*728G>A (DOP1A) XP_016866048.1:n.*728G>A
XM_017010560.2:c.*728G>A (DOP1A) XP_016866049.1:n.*728G>A
XM_017010561.1:c.*728G>A (DOP1A) XP_016866050.1:n.*728G>A
XM_017010562.2:c.*728G>A (DOP1A) XP_016866051.1:n.*728G>A
XM_017010564.1:c.*728G>A (DOP1A) XP_016866053.1:n.*728G>A
XM_017010566.1:c.*728G>A (DOP1A) XP_016866055.1:n.*728G>A
XM_017010570.1:c.*728G>A (DOP1A) XP_016866059.1:n.*728G>A
XM_017010571.1:c.*728G>A (DOP1A) XP_016866060.1:n.*728G>A
XM_017010572.1:c.*728G>A (DOP1A) XP_016866061.1:n.*728G>A
XM_017010935.1:c.1231C>T (PGM3) XP_016866424.1:p.Arg411Ter
XM_017010937.1:c.1108C>T (PGM3) XP_016866426.1:p.Arg370Ter
XM_024446459.1:c.1351C>T (PGM3) XP_024302227.1:p.Arg451Ter
XM_024446460.1:c.1558C>T (PGM3) XP_024302228.1:p.Arg520Ter
XR_001743468.2:n.1358C>T (PGM3)
XR_942476.1:n.1715C>T (PGM3)
XR_942477.1:n.1700C>T (PGM3)
XR_942478.1:n.1564C>T (PGM3)
XR_942478.3:n.1564C>T (PGM3)
XR_942479.1:n.1590C>T (PGM3)
XR_942480.1:n.1358C>T (PGM3)
XR_942480.2:n.1358C>T (PGM3)