Canonical Allele Identifier: CA8001173
Community Standard Title: NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
Gene: ALDOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30069831G>C , CM000678.2:g.30069831G>C GRCh38
NC_000016.9:g.30081152G>C , CM000678.1:g.30081152G>C GRCh37
NC_000016.8:g.29988653G>C NCBI36
NG_008010.1:g.21662G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001243177.4:c.963G>C MANE Select NP_001230106.1:p.Gly321=
ENST00000642816.3:c.963G>C MANE Select ENSP00000496166.1:p.Gly321=
NM_000034.3:c.801G>C NP_000025.1:p.Gly267=
NM_001127617.2:c.801G>C NP_001121089.1:p.Gly267=
NM_001243177.1:c.963G>C NP_001230106.1:p.Gly321=
NM_001243177.2:c.963G>C NP_001230106.1:p.Gly321=
NM_001243177.3:c.963G>C NP_001230106.1:p.Gly321=
NM_001365304.1:c.*1310G>C NP_001352233.1:n.*1310G>C
NM_001365304.2:c.*1310G>C NP_001352233.1:n.*1310G>C
NM_001365305.1:c.*1310G>C NP_001352234.1:n.*1310G>C
NM_001365305.2:c.*1310G>C NP_001352234.1:n.*1310G>C
NM_001365307.1:c.*1310G>C NP_001352236.1:n.*1310G>C
NM_001365307.2:c.*1310G>C NP_001352236.1:n.*1310G>C
NM_184041.2:c.801G>C NP_908930.1:p.Gly267=
NM_184041.3:c.801G>C NP_908930.1:p.Gly267=
NM_184041.4:c.801G>C NP_908930.1:p.Gly267=
NM_184041.5:c.801G>C NP_908930.1:p.Gly267=
NM_184043.2:c.801G>C NP_908932.1:p.Gly267=
ENST00000338110.10:c.*1310G>C ENSP00000336927.6:n.*1310G>C
ENST00000338110.11:c.*1310G>C ENSP00000336927.6:n.*1310G>C
ENST00000338110.9:c.801G>C ENSP00000336927.5:p.Gly267=
ENST00000395240.7:c.813G>C ENSP00000378661.3:p.Gly271=
ENST00000395248.5:c.963G>C ENSP00000378669.1:p.Gly321=
ENST00000395248.6:c.*983G>C ENSP00000378669.2:n.*983G>C
ENST00000412304.6:c.801G>C ENSP00000400452.2:p.Gly267=
ENST00000563060.6:c.801G>C ENSP00000455800.2:p.Gly267=
ENST00000564521.6:n.1995G>C
ENST00000564546.5:c.801G>C ENSP00000455917.1:p.Gly267=
ENST00000564595.6:c.963G>C ENSP00000457468.2:p.Gly321=
ENST00000564688.1:c.552G>C ENSP00000457514.1:p.Gly184=
ENST00000565355.1:c.98G>C
ENST00000566130.1:n.305G>C
ENST00000566897.5:c.801G>C ENSP00000455724.1:p.Gly267=
ENST00000566897.6:c.*1310G>C ENSP00000455724.2:n.*1310G>C
ENST00000569545.5:c.801G>C ENSP00000455700.1:p.Gly267=
ENST00000569798.5:c.801G>C ENSP00000455857.1:p.Gly267=
ENST00000627059.2:c.813G>C ENSP00000485952.1:p.Gly271=
ENST00000643777.4:c.801G>C ENSP00000494188.2:p.Gly267=
XM_011545767.1:c.801G>C XP_011544069.1:p.Gly267=
XM_011545768.1:c.801G>C XP_011544070.1:p.Gly267=
XM_024450192.1:c.801G>C XP_024305960.1:p.Gly267=
XM_024450193.1:c.801G>C XP_024305961.1:p.Gly267=