Canonical Allele Identifier: CA3906474

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83169309G>T , CM000668.2:g.83169309G>T GRCh38
NC_000006.11:g.83879028G>T , CM000668.1:g.83879028G>T GRCh37
NC_000006.10:g.83935747G>T NCBI36
NG_034146.1:g.29628C>A
NG_034146.2:g.29592C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015599.3:c.1554C>A (PGM3) MANE Select NP_056414.1:p.His518Gln
ENST00000513973.6:c.1554C>A (PGM3) MANE Select ENSP00000424874.1:p.His518Gln
NM_001199917.1:c.1638C>A (PGM3) NP_001186846.1:p.His546Gln
NM_001199917.2:c.1638C>A (PGM3) NP_001186846.1:p.His546Gln
NM_001199918.1:c.1315C>A (PGM3) NP_001186847.1:p.Pro439Thr
NM_001199918.2:c.1315C>A (PGM3) NP_001186847.1:p.Pro439Thr
NM_001199919.1:c.1554C>A (PGM3) NP_001186848.1:p.His518Gln
NM_001199919.2:c.1554C>A (PGM3) NP_001186848.1:p.His518Gln
NM_001367286.1:c.1431C>A (PGM3) NP_001354215.1:p.His477Gln
NM_001367287.1:c.1638C>A (PGM3) NP_001354216.1:p.His546Gln
NM_015599.2:c.1554C>A (PGM3) NP_056414.1:p.His518Gln
NR_159812.1:n.1643C>A (PGM3)
NR_159812.2:n.1643C>A (PGM3)
NR_169791.1:n.8216-169G>T (DOP1A)
ENST00000283977.8:c.1311C>A (PGM3) ENSP00000283977.4:p.His437Gln
ENST00000283977.9:c.1315C>A (PGM3) ENSP00000283977.5:p.Pro439Thr
ENST00000484282.1:n.4355-169G>T (DOP1A)
ENST00000504780.5:c.266C>A (PGM3)
ENST00000504780.6:c.*505C>A (PGM3) ENSP00000421154.2:n.*505C>A
ENST00000505470.6:c.*2315C>A (PGM3) ENSP00000423769.1:n.*2315C>A
ENST00000506587.5:c.1638C>A (PGM3) ENSP00000425809.1:p.His546Gln
ENST00000507554.2:c.1554C>A (PGM3) ENSP00000425558.2:p.His518Gln
ENST00000508748.6:c.1638C>A (PGM3) ENSP00000424865.2:p.His546Gln
ENST00000512866.5:c.1554C>A (PGM3) ENSP00000421565.1:p.His518Gln
ENST00000513973.5:c.1554C>A (PGM3) ENSP00000424874.1:p.His518Gln
ENST00000616566.4:c.1315C>A (PGM3) ENSP00000477539.1:p.Pro439Thr
ENST00000616566.5:c.1188C>A (PGM3) ENSP00000477539.2:p.His396Gln
ENST00000650640.1:c.*538C>A (PGM3) ENSP00000498423.1:n.*538C>A
ENST00000650642.1:c.1431C>A (PGM3) ENSP00000498516.1:p.His477Gln
ENST00000651204.1:c.1050C>A (PGM3)
ENST00000651204.2:c.*292C>A (PGM3) ENSP00000498912.2:n.*292C>A
ENST00000651425.1:c.1311C>A (PGM3) ENSP00000498986.1:p.His437Gln
ENST00000651698.1:c.668C>A (PGM3)
ENST00000651698.2:c.*505C>A (PGM3) ENSP00000498398.2:n.*505C>A
ENST00000652222.1:c.1209C>A (PGM3) ENSP00000499141.1:p.His403Gln
ENST00000652222.2:c.1455C>A (PGM3) ENSP00000499141.2:p.His485Gln
ENST00000698524.1:c.1554C>A (PGM3) ENSP00000513773.1:p.His518Gln
ENST00000698525.1:c.*951C>A (PGM3) ENSP00000513774.1:n.*951C>A
ENST00000698526.1:c.*951C>A (PGM3) ENSP00000513775.1:n.*951C>A
ENST00000698599.1:c.1554C>A (PGM3) ENSP00000513827.1:p.His518Gln
ENST00000698600.1:c.*505C>A (PGM3) ENSP00000513828.1:n.*505C>A
ENST00000698601.1:c.*1133C>A (PGM3) ENSP00000513829.1:n.*1133C>A
ENST00000698602.1:c.1554C>A (PGM3) ENSP00000513830.1:p.His518Gln
ENST00000698603.1:c.*1330C>A (PGM3) ENSP00000513831.1:n.*1330C>A
ENST00000698604.1:c.*1092C>A (PGM3) ENSP00000513832.1:n.*1092C>A
ENST00000698605.1:c.*1334C>A (PGM3) ENSP00000513833.1:n.*1334C>A
ENST00000698606.1:n.3403C>A (PGM3)
ENST00000698607.1:c.*1979C>A (PGM3) ENSP00000513834.1:n.*1979C>A
ENST00000698608.1:c.1212C>A (PGM3) ENSP00000513835.1:p.His404Gln
ENST00000698609.1:c.*2012C>A (PGM3) ENSP00000513836.1:n.*2012C>A
ENST00000698610.1:c.1311C>A (PGM3) ENSP00000513837.1:p.His437Gln
ENST00000698611.1:n.5191C>A (PGM3)
ENST00000698612.1:c.1116C>A (PGM3) ENSP00000513838.1:p.His372Gln
ENST00000698613.1:c.*951C>A (PGM3) ENSP00000513839.1:n.*951C>A
ENST00000698614.1:c.*1486C>A (PGM3) ENSP00000513840.1:n.*1486C>A
ENST00000698615.1:c.*1153C>A (PGM3) ENSP00000513841.1:n.*1153C>A
XM_011535619.2:c.*590-169G>T (DOP1A) XP_011533921.1:n.*590-169G>T
XM_011535901.1:c.1638C>A (PGM3) XP_011534203.1:p.His546Gln
XM_011535902.1:c.1638C>A (PGM3) XP_011534204.1:p.His546Gln
XM_011535903.1:c.1638C>A (PGM3) XP_011534205.1:p.His546Gln
XM_017010559.1:c.*590-169G>T (DOP1A) XP_016866048.1:n.*590-169G>T
XM_017010560.2:c.*590-169G>T (DOP1A) XP_016866049.1:n.*590-169G>T
XM_017010561.1:c.*590-169G>T (DOP1A) XP_016866050.1:n.*590-169G>T
XM_017010562.2:c.*590-169G>T (DOP1A) XP_016866051.1:n.*590-169G>T
XM_017010564.1:c.*590-169G>T (DOP1A) XP_016866053.1:n.*590-169G>T
XM_017010566.1:c.*590-169G>T (DOP1A) XP_016866055.1:n.*590-169G>T
XM_017010570.1:c.*590-169G>T (DOP1A) XP_016866059.1:n.*590-169G>T
XM_017010571.1:c.*590-169G>T (DOP1A) XP_016866060.1:n.*590-169G>T
XM_017010572.1:c.*590-169G>T (DOP1A) XP_016866061.1:n.*590-169G>T
XM_017010935.1:c.1311C>A (PGM3) XP_016866424.1:p.His437Gln
XM_017010937.1:c.1188C>A (PGM3) XP_016866426.1:p.His396Gln
XM_024446459.1:c.1431C>A (PGM3) XP_024302227.1:p.His477Gln
XM_024446460.1:c.1638C>A (PGM3) XP_024302228.1:p.His546Gln
XR_001743468.2:n.1438C>A (PGM3)
XR_942476.1:n.1795C>A (PGM3)
XR_942477.1:n.1780C>A (PGM3)
XR_942478.1:n.1644C>A (PGM3)
XR_942478.3:n.1644C>A (PGM3)
XR_942479.1:n.1670C>A (PGM3)
XR_942480.1:n.1438C>A (PGM3)
XR_942480.2:n.1438C>A (PGM3)