Canonical Allele Identifier: CA364878479

Gene: PGM3 DOP1A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83170396T>C , CM000668.2:g.83170396T>C	GRCh38
NC_000006.11:g.83880115T>C , CM000668.1:g.83880115T>C	GRCh37
NC_000006.10:g.83936834T>C	NCBI36
NG_034146.1:g.28541A>G
NG_034146.2:g.28505A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015599.3:c.1448A>G (PGM3) MANE Select	NP_056414.1:p.Asp483Gly
ENST00000513973.6:c.1448A>G (PGM3) MANE Select	ENSP00000424874.1:p.Asp483Gly
NM_001199917.1:c.1532A>G (PGM3)	NP_001186846.1:p.Asp511Gly
NM_001199917.2:c.1532A>G (PGM3)	NP_001186846.1:p.Asp511Gly
NM_001199918.1:c.1205A>G (PGM3)	NP_001186847.1:p.Asp402Gly
NM_001199918.2:c.1205A>G (PGM3)	NP_001186847.1:p.Asp402Gly
NM_001199919.1:c.1448A>G (PGM3)	NP_001186848.1:p.Asp483Gly
NM_001199919.2:c.1448A>G (PGM3)	NP_001186848.1:p.Asp483Gly
NM_001367286.1:c.1325A>G (PGM3)	NP_001354215.1:p.Asp442Gly
NM_001367287.1:c.1532A>G (PGM3)	NP_001354216.1:p.Asp511Gly
NM_015599.2:c.1448A>G (PGM3)	NP_056414.1:p.Asp483Gly
NR_159812.1:n.1537A>G (PGM3)
NR_159812.2:n.1537A>G (PGM3)
NR_169791.1:n.8380T>C (DOP1A)
ENST00000283977.8:c.1205A>G (PGM3)	ENSP00000283977.4:p.Asp402Gly
ENST00000283977.9:c.1205A>G (PGM3)	ENSP00000283977.5:p.Asp402Gly
ENST00000484282.1:n.4519T>C (DOP1A)
ENST00000504780.5:c.160A>G (PGM3)
ENST00000504780.6:c.*399A>G (PGM3)	ENSP00000421154.2:n.*399A>G
ENST00000505470.6:c.*1228A>G (PGM3)	ENSP00000423769.1:n.*1228A>G
ENST00000506587.5:c.1532A>G (PGM3)	ENSP00000425809.1:p.Asp511Gly
ENST00000507554.2:c.1448A>G (PGM3)	ENSP00000425558.2:p.Asp483Gly
ENST00000508748.6:c.1532A>G (PGM3)	ENSP00000424865.2:p.Asp511Gly
ENST00000509219.1:c.341A>G (PGM3)	ENSP00000423389.1:p.Asp114Gly
ENST00000509219.2:c.1448A>G (PGM3)	ENSP00000423389.2:p.Asp483Gly
ENST00000512866.5:c.1448A>G (PGM3)	ENSP00000421565.1:p.Asp483Gly
ENST00000513973.5:c.1448A>G (PGM3)	ENSP00000424874.1:p.Asp483Gly
ENST00000616566.4:c.1205A>G (PGM3)	ENSP00000477539.1:p.Asp402Gly
ENST00000616566.5:c.1082A>G (PGM3)	ENSP00000477539.2:p.Asp361Gly
ENST00000650640.1:c.*432A>G (PGM3)	ENSP00000498423.1:n.*432A>G
ENST00000650642.1:c.1325A>G (PGM3)	ENSP00000498516.1:p.Asp442Gly
ENST00000651204.1:c.944A>G (PGM3)
ENST00000651204.2:c.*186A>G (PGM3)	ENSP00000498912.2:n.*186A>G
ENST00000651425.1:c.1205A>G (PGM3)	ENSP00000498986.1:p.Asp402Gly
ENST00000651698.1:c.562A>G (PGM3)
ENST00000651698.2:c.*399A>G (PGM3)	ENSP00000498398.2:n.*399A>G
ENST00000652222.1:c.1103A>G (PGM3)	ENSP00000499141.1:p.Asp368Gly
ENST00000652222.2:c.1349A>G (PGM3)	ENSP00000499141.2:p.Asp450Gly
ENST00000652468.1:c.1448A>G (PGM3)	ENSP00000499112.1:p.Asp483Gly
ENST00000698524.1:c.1448A>G (PGM3)	ENSP00000513773.1:p.Asp483Gly
ENST00000698525.1:c.524A>G (PGM3)	ENSP00000513774.1:p.Asp175Gly
ENST00000698526.1:c.1448A>G (PGM3)	ENSP00000513775.1:p.Asp483Gly
ENST00000698599.1:c.1448A>G (PGM3)	ENSP00000513827.1:p.Asp483Gly
ENST00000698600.1:c.*399A>G (PGM3)	ENSP00000513828.1:n.*399A>G
ENST00000698601.1:c.*1027A>G (PGM3)	ENSP00000513829.1:n.*1027A>G
ENST00000698602.1:c.1448A>G (PGM3)	ENSP00000513830.1:p.Asp483Gly
ENST00000698603.1:c.*1224A>G (PGM3)	ENSP00000513831.1:n.*1224A>G
ENST00000698604.1:c.*986A>G (PGM3)	ENSP00000513832.1:n.*986A>G
ENST00000698605.1:c.*1228A>G (PGM3)	ENSP00000513833.1:n.*1228A>G
ENST00000698606.1:n.3297A>G (PGM3)
ENST00000698607.1:c.*1873A>G (PGM3)	ENSP00000513834.1:n.*1873A>G
ENST00000698608.1:c.1106A>G (PGM3)	ENSP00000513835.1:p.Asp369Gly
ENST00000698609.1:c.*1906A>G (PGM3)	ENSP00000513836.1:n.*1906A>G
ENST00000698610.1:c.1205A>G (PGM3)	ENSP00000513837.1:p.Asp402Gly
ENST00000698611.1:n.5085A>G (PGM3)
ENST00000698612.1:c.1010A>G (PGM3)	ENSP00000513838.1:p.Asp337Gly
ENST00000698613.1:c.1349A>G (PGM3)	ENSP00000513839.1:p.Asp450Gly
ENST00000698614.1:c.*399A>G (PGM3)	ENSP00000513840.1:n.*399A>G
ENST00000698615.1:c.*1047A>G (PGM3)	ENSP00000513841.1:n.*1047A>G
XM_011535619.2:c.*754T>C (DOP1A)	XP_011533921.1:n.*754T>C
XM_011535901.1:c.1532A>G (PGM3)	XP_011534203.1:p.Asp511Gly
XM_011535902.1:c.1532A>G (PGM3)	XP_011534204.1:p.Asp511Gly
XM_011535903.1:c.1532A>G (PGM3)	XP_011534205.1:p.Asp511Gly
XM_017010559.1:c.*754T>C (DOP1A)	XP_016866048.1:n.*754T>C
XM_017010560.2:c.*754T>C (DOP1A)	XP_016866049.1:n.*754T>C
XM_017010561.1:c.*754T>C (DOP1A)	XP_016866050.1:n.*754T>C
XM_017010562.2:c.*754T>C (DOP1A)	XP_016866051.1:n.*754T>C
XM_017010564.1:c.*754T>C (DOP1A)	XP_016866053.1:n.*754T>C
XM_017010566.1:c.*754T>C (DOP1A)	XP_016866055.1:n.*754T>C
XM_017010570.1:c.*754T>C (DOP1A)	XP_016866059.1:n.*754T>C
XM_017010571.1:c.*754T>C (DOP1A)	XP_016866060.1:n.*754T>C
XM_017010572.1:c.*754T>C (DOP1A)	XP_016866061.1:n.*754T>C
XM_017010935.1:c.1205A>G (PGM3)	XP_016866424.1:p.Asp402Gly
XM_017010937.1:c.1082A>G (PGM3)	XP_016866426.1:p.Asp361Gly
XM_024446459.1:c.1325A>G (PGM3)	XP_024302227.1:p.Asp442Gly
XM_024446460.1:c.1532A>G (PGM3)	XP_024302228.1:p.Asp511Gly
XR_001743468.2:n.1332A>G (PGM3)
XR_942476.1:n.1689A>G (PGM3)
XR_942477.1:n.1674A>G (PGM3)
XR_942478.1:n.1538A>G (PGM3)
XR_942478.3:n.1538A>G (PGM3)
XR_942479.1:n.1564A>G (PGM3)
XR_942480.1:n.1332A>G (PGM3)
XR_942480.2:n.1332A>G (PGM3)