Canonical Allele Identifier: CA8001119
Community Standard Title: NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)
Gene: ALDOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30069641C>T , CM000678.2:g.30069641C>T GRCh38
NC_000016.9:g.30080962C>T , CM000678.1:g.30080962C>T GRCh37
NC_000016.8:g.29988463C>T NCBI36
NG_008010.1:g.21472C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001243177.4:c.929C>T MANE Select NP_001230106.1:p.Ala310Val
ENST00000642816.3:c.929C>T MANE Select ENSP00000496166.1:p.Ala310Val
NM_000034.3:c.767C>T NP_000025.1:p.Ala256Val
NM_001127617.2:c.767C>T NP_001121089.1:p.Ala256Val
NM_001243177.1:c.929C>T NP_001230106.1:p.Ala310Val
NM_001243177.2:c.929C>T NP_001230106.1:p.Ala310Val
NM_001243177.3:c.929C>T NP_001230106.1:p.Ala310Val
NM_001365304.1:c.*1276C>T NP_001352233.1:n.*1276C>T
NM_001365304.2:c.*1276C>T NP_001352233.1:n.*1276C>T
NM_001365305.1:c.*1276C>T NP_001352234.1:n.*1276C>T
NM_001365305.2:c.*1276C>T NP_001352234.1:n.*1276C>T
NM_001365307.1:c.*1276C>T NP_001352236.1:n.*1276C>T
NM_001365307.2:c.*1276C>T NP_001352236.1:n.*1276C>T
NM_184041.2:c.767C>T NP_908930.1:p.Ala256Val
NM_184041.3:c.767C>T NP_908930.1:p.Ala256Val
NM_184041.4:c.767C>T NP_908930.1:p.Ala256Val
NM_184041.5:c.767C>T NP_908930.1:p.Ala256Val
NM_184043.2:c.767C>T NP_908932.1:p.Ala256Val
ENST00000338110.10:c.*1276C>T ENSP00000336927.6:n.*1276C>T
ENST00000338110.11:c.*1276C>T ENSP00000336927.6:n.*1276C>T
ENST00000338110.9:c.767C>T ENSP00000336927.5:p.Ala256Val
ENST00000395240.7:c.779C>T ENSP00000378661.3:p.Ala260Val
ENST00000395248.5:c.929C>T ENSP00000378669.1:p.Ala310Val
ENST00000395248.6:c.*949C>T ENSP00000378669.2:n.*949C>T
ENST00000412304.6:c.767C>T ENSP00000400452.2:p.Ala256Val
ENST00000563060.6:c.767C>T ENSP00000455800.2:p.Ala256Val
ENST00000564521.6:n.1961C>T
ENST00000564546.5:c.767C>T ENSP00000455917.1:p.Ala256Val
ENST00000564595.6:c.929C>T ENSP00000457468.2:p.Ala310Val
ENST00000564688.1:c.518C>T ENSP00000457514.1:p.Ala173Val
ENST00000565355.1:c.64C>T
ENST00000566130.1:n.271C>T
ENST00000566897.5:c.767C>T ENSP00000455724.1:p.Ala256Val
ENST00000566897.6:c.*1276C>T ENSP00000455724.2:n.*1276C>T
ENST00000569545.5:c.767C>T ENSP00000455700.1:p.Ala256Val
ENST00000569798.5:c.767C>T ENSP00000455857.1:p.Ala256Val
ENST00000627059.2:c.779C>T ENSP00000485952.1:p.Ala260Val
ENST00000643777.4:c.767C>T ENSP00000494188.2:p.Ala256Val
XM_011545767.1:c.767C>T XP_011544069.1:p.Ala256Val
XM_011545768.1:c.767C>T XP_011544070.1:p.Ala256Val
XM_024450192.1:c.767C>T XP_024305960.1:p.Ala256Val
XM_024450193.1:c.767C>T XP_024305961.1:p.Ala256Val