Canonical Allele Identifier: CA364880983

Gene: PGM3

Linked Data

• dbSNP Id: rs1208720613
• gnomAD v2: 6-83888435-T-C
• gnomAD v4: 6-83178716-T-C
• MyVariant Identifiers: chr6:g.83888435T>C (hg19) ; chr6:g.83178716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83178716T>C , CM000668.2:g.83178716T>C	GRCh38
NC_000006.11:g.83888435T>C , CM000668.1:g.83888435T>C	GRCh37
NC_000006.10:g.83945154T>C	NCBI36
NG_034146.1:g.20221A>G
NG_034146.2:g.20185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504780.6:c.788-2656A>G	ENSP00000421154.2:n.788-2656A>G
ENST00000505470.6:c.*766A>G	ENSP00000423769.1:n.*766A>G
ENST00000507554.2:c.986A>G	ENSP00000425558.2:p.Tyr329Cys
ENST00000508748.6:c.1070A>G	ENSP00000424865.2:p.Tyr357Cys
ENST00000651204.2:c.787+3020A>G	ENSP00000498912.2:n.787+3020A>G
ENST00000651698.2:c.788-2656A>G	ENSP00000498398.2:n.788-2656A>G
ENST00000652222.2:c.986A>G	ENSP00000499141.2:p.Tyr329Cys
ENST00000698524.1:c.986A>G	ENSP00000513773.1:p.Tyr329Cys
ENST00000698525.1:c.205-4229A>G	ENSP00000513774.1:n.205-4229A>G
ENST00000698526.1:c.986A>G	ENSP00000513775.1:p.Tyr329Cys
ENST00000698599.1:c.986A>G	ENSP00000513827.1:p.Tyr329Cys
ENST00000698600.1:c.788-2656A>G	ENSP00000513828.1:n.788-2656A>G
ENST00000698601.1:c.*565A>G	ENSP00000513829.1:n.*565A>G
ENST00000698602.1:c.986A>G	ENSP00000513830.1:p.Tyr329Cys
ENST00000698603.1:c.*766A>G	ENSP00000513831.1:n.*766A>G
ENST00000698604.1:c.*568-2656A>G	ENSP00000513832.1:n.*568-2656A>G
ENST00000698605.1:c.*766A>G	ENSP00000513833.1:n.*766A>G
ENST00000698606.1:n.2879-2656A>G
ENST00000698607.1:c.788-2656A>G	ENSP00000513834.1:n.788-2656A>G
ENST00000698608.1:c.743A>G	ENSP00000513835.1:p.Tyr248Cys
ENST00000698609.1:c.828A>G	ENSP00000513836.1:p.Ile276Met
ENST00000698610.1:c.743A>G	ENSP00000513837.1:p.Tyr248Cys
ENST00000698611.1:n.4623A>G
ENST00000698612.1:c.592-2656A>G	ENSP00000513838.1:n.592-2656A>G
ENST00000698613.1:c.986A>G	ENSP00000513839.1:p.Tyr329Cys
ENST00000698614.1:c.788-2656A>G	ENSP00000513840.1:n.788-2656A>G
ENST00000698615.1:c.*585A>G	ENSP00000513841.1:n.*585A>G
ENST00000698616.1:n.1075A>G
ENST00000698617.1:n.1212A>G
ENST00000698618.1:c.*766A>G	ENSP00000513842.1:n.*766A>G
ENST00000698619.1:n.1075A>G
ENST00000698620.1:c.788-2656A>G	ENSP00000513843.1:n.788-2656A>G
ENST00000283977.9:c.743A>G	ENSP00000283977.5:p.Tyr248Cys
ENST00000509219.2:c.986A>G	ENSP00000423389.2:p.Tyr329Cys
ENST00000513973.6:c.986A>G MANE Select	ENSP00000424874.1:p.Tyr329Cys
ENST00000616566.5:c.743A>G	ENSP00000477539.2:p.Tyr248Cys
ENST00000650640.1:c.828A>G	ENSP00000498423.1:p.Ile276Met
ENST00000650642.1:c.986A>G	ENSP00000498516.1:p.Tyr329Cys
ENST00000651204.1:c.747+3020A>G
ENST00000651425.1:c.743A>G	ENSP00000498986.1:p.Tyr248Cys
ENST00000651698.1:c.144-2656A>G
ENST00000652222.1:c.740A>G	ENSP00000499141.1:p.Tyr247Cys
ENST00000652468.1:c.986A>G	ENSP00000499112.1:p.Tyr329Cys
ENST00000283977.8:c.743A>G	ENSP00000283977.4:p.Tyr248Cys
ENST00000506587.5:c.1070A>G	ENSP00000425809.1:p.Tyr357Cys
ENST00000512866.5:c.986A>G	ENSP00000421565.1:p.Tyr329Cys
ENST00000513973.5:c.986A>G	ENSP00000424874.1:p.Tyr329Cys
ENST00000616566.4:c.743A>G	ENSP00000477539.1:p.Tyr248Cys
NM_001199917.1:c.1070A>G	NP_001186846.1:p.Tyr357Cys
NM_001199918.1:c.743A>G	NP_001186847.1:p.Tyr248Cys
NM_001199919.1:c.986A>G	NP_001186848.1:p.Tyr329Cys
NM_015599.2:c.986A>G	NP_056414.1:p.Tyr329Cys
XM_011535901.1:c.1070A>G	XP_011534203.1:p.Tyr357Cys
XM_011535902.1:c.1070A>G	XP_011534204.1:p.Tyr357Cys
XM_011535903.1:c.1070A>G	XP_011534205.1:p.Tyr357Cys
XR_942476.1:n.1227A>G
XR_942477.1:n.1212A>G
XR_942478.1:n.1076A>G
XR_942479.1:n.1102A>G
XR_942480.1:n.870A>G
XM_017010935.1:c.743A>G	XP_016866424.1:p.Tyr248Cys
XM_017010937.1:c.743A>G	XP_016866426.1:p.Tyr248Cys
XM_024446459.1:c.986A>G	XP_024302227.1:p.Tyr329Cys
XM_024446460.1:c.1070A>G	XP_024302228.1:p.Tyr357Cys
XR_001743468.2:n.870A>G
XR_942478.3:n.1076A>G
XR_942480.2:n.870A>G
NM_001199917.2:c.1070A>G	NP_001186846.1:p.Tyr357Cys
NM_001367286.1:c.986A>G	NP_001354215.1:p.Tyr329Cys
NM_001367287.1:c.1070A>G	NP_001354216.1:p.Tyr357Cys
NM_015599.3:c.986A>G MANE Select	NP_056414.1:p.Tyr329Cys
NR_159812.1:n.1075A>G
NM_001199918.2:c.743A>G	NP_001186847.1:p.Tyr248Cys
NM_001199919.2:c.986A>G	NP_001186848.1:p.Tyr329Cys
NR_159812.2:n.1075A>G