Canonical Allele Identifier: CA357929

Gene: PGM3

Linked Data

• ClinVar Variation Id: 224830
• ClinVar RCV Id: RCV000210409
• dbSNP Id: rs869312886
• gnomAD v4: 6-83181808-C-G
• MyVariant Identifiers: chr6:g.83891527C>G (hg19) ; chr6:g.83181808C>G (hg38)
• PubMed: PMID:24931394

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83181808C>G , CM000668.2:g.83181808C>G	GRCh38
NC_000006.11:g.83891527C>G , CM000668.1:g.83891527C>G	GRCh37
NC_000006.10:g.83948246C>G	NCBI36
NG_034146.1:g.17129G>C
NG_034146.2:g.17093G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504780.6:c.715G>C	ENSP00000421154.2:p.Asp239His
ENST00000505470.6:c.*495G>C	ENSP00000423769.1:n.*495G>C
ENST00000507554.2:c.715G>C	ENSP00000425558.2:p.Asp239His
ENST00000508748.6:c.799G>C	ENSP00000424865.2:p.Asp267His
ENST00000651204.2:c.715G>C	ENSP00000498912.2:p.Asp239His
ENST00000651698.2:c.715G>C	ENSP00000498398.2:p.Asp239His
ENST00000652222.2:c.715G>C	ENSP00000499141.2:p.Asp239His
ENST00000698524.1:c.715G>C	ENSP00000513773.1:p.Asp239His
ENST00000698525.1:c.205-7321G>C	ENSP00000513774.1:n.205-7321G>C
ENST00000698526.1:c.715G>C	ENSP00000513775.1:p.Asp239His
ENST00000698599.1:c.715G>C	ENSP00000513827.1:p.Asp239His
ENST00000698600.1:c.715G>C	ENSP00000513828.1:p.Asp239His
ENST00000698601.1:c.*294G>C	ENSP00000513829.1:n.*294G>C
ENST00000698602.1:c.715G>C	ENSP00000513830.1:p.Asp239His
ENST00000698603.1:c.*495G>C	ENSP00000513831.1:n.*495G>C
ENST00000698604.1:c.*495G>C	ENSP00000513832.1:n.*495G>C
ENST00000698605.1:c.*495G>C	ENSP00000513833.1:n.*495G>C
ENST00000698606.1:n.2806G>C
ENST00000698607.1:c.715G>C	ENSP00000513834.1:p.Asp239His
ENST00000698608.1:c.472G>C	ENSP00000513835.1:p.Asp158His
ENST00000698609.1:c.715G>C	ENSP00000513836.1:p.Asp239His
ENST00000698610.1:c.472G>C	ENSP00000513837.1:p.Asp158His
ENST00000698611.1:n.4352G>C
ENST00000698612.1:c.591+1037G>C	ENSP00000513838.1:n.591+1037G>C
ENST00000698613.1:c.715G>C	ENSP00000513839.1:p.Asp239His
ENST00000698614.1:c.715G>C	ENSP00000513840.1:p.Asp239His
ENST00000698615.1:c.*314G>C	ENSP00000513841.1:n.*314G>C
ENST00000698616.1:n.804G>C
ENST00000698617.1:n.941G>C
ENST00000698618.1:c.*495G>C	ENSP00000513842.1:n.*495G>C
ENST00000698619.1:n.804G>C
ENST00000698620.1:c.715G>C	ENSP00000513843.1:p.Asp239His
ENST00000698621.1:n.804G>C
ENST00000283977.9:c.472G>C	ENSP00000283977.5:p.Asp158His
ENST00000509219.2:c.715G>C	ENSP00000423389.2:p.Asp239His
ENST00000513973.6:c.715G>C MANE Select	ENSP00000424874.1:p.Asp239His
ENST00000616566.5:c.472G>C	ENSP00000477539.2:p.Asp158His
ENST00000650640.1:c.715G>C	ENSP00000498423.1:p.Asp239His
ENST00000650642.1:c.715G>C	ENSP00000498516.1:p.Asp239His
ENST00000651204.1:c.675G>C
ENST00000651425.1:c.472G>C	ENSP00000498986.1:p.Asp158His
ENST00000651698.1:c.71G>C
ENST00000652222.1:c.469G>C	ENSP00000499141.1:p.Asp157His
ENST00000652468.1:c.715G>C	ENSP00000499112.1:p.Asp239His
ENST00000283977.8:c.472G>C	ENSP00000283977.4:p.Asp158His
ENST00000506587.5:c.799G>C	ENSP00000425809.1:p.Asp267His
ENST00000510258.1:c.472G>C	ENSP00000427420.1:p.Asp158His
ENST00000512866.5:c.715G>C	ENSP00000421565.1:p.Asp239His
ENST00000513973.5:c.715G>C	ENSP00000424874.1:p.Asp239His
ENST00000616566.4:c.472G>C	ENSP00000477539.1:p.Asp158His
NM_001199917.1:c.799G>C	NP_001186846.1:p.Asp267His
NM_001199918.1:c.472G>C	NP_001186847.1:p.Asp158His
NM_001199919.1:c.715G>C	NP_001186848.1:p.Asp239His
NM_015599.2:c.715G>C	NP_056414.1:p.Asp239His
XM_011535901.1:c.799G>C	XP_011534203.1:p.Asp267His
XM_011535902.1:c.799G>C	XP_011534204.1:p.Asp267His
XM_011535903.1:c.799G>C	XP_011534205.1:p.Asp267His
XR_942476.1:n.956G>C
XR_942477.1:n.941G>C
XR_942478.1:n.805G>C
XR_942479.1:n.831G>C
XR_942480.1:n.599G>C
XM_017010935.1:c.472G>C	XP_016866424.1:p.Asp158His
XM_017010937.1:c.472G>C	XP_016866426.1:p.Asp158His
XM_024446459.1:c.715G>C	XP_024302227.1:p.Asp239His
XM_024446460.1:c.799G>C	XP_024302228.1:p.Asp267His
XR_001743468.2:n.599G>C
XR_942478.3:n.805G>C
XR_942480.2:n.599G>C
NM_001199917.2:c.799G>C	NP_001186846.1:p.Asp267His
NM_001367286.1:c.715G>C	NP_001354215.1:p.Asp239His
NM_001367287.1:c.799G>C	NP_001354216.1:p.Asp267His
NM_015599.3:c.715G>C MANE Select	NP_056414.1:p.Asp239His
NR_159812.1:n.804G>C
NM_001199918.2:c.472G>C	NP_001186847.1:p.Asp158His
NM_001199919.2:c.715G>C	NP_001186848.1:p.Asp239His
NR_159812.2:n.804G>C