Canonical Allele Identifier: CA8001129
Community Standard Title: NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
Gene: ALDOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30069663C>A , CM000678.2:g.30069663C>A GRCh38
NC_000016.9:g.30080984C>A , CM000678.1:g.30080984C>A GRCh37
NC_000016.8:g.29988485C>A NCBI36
NG_008010.1:g.21494C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001243177.4:c.951C>A MANE Select NP_001230106.1:p.Pro317=
ENST00000642816.3:c.951C>A MANE Select ENSP00000496166.1:p.Pro317=
NM_000034.3:c.789C>A NP_000025.1:p.Pro263=
NM_001127617.2:c.789C>A NP_001121089.1:p.Pro263=
NM_001243177.1:c.951C>A NP_001230106.1:p.Pro317=
NM_001243177.2:c.951C>A NP_001230106.1:p.Pro317=
NM_001243177.3:c.951C>A NP_001230106.1:p.Pro317=
NM_001365304.1:c.*1298C>A NP_001352233.1:n.*1298C>A
NM_001365304.2:c.*1298C>A NP_001352233.1:n.*1298C>A
NM_001365305.1:c.*1298C>A NP_001352234.1:n.*1298C>A
NM_001365305.2:c.*1298C>A NP_001352234.1:n.*1298C>A
NM_001365307.1:c.*1298C>A NP_001352236.1:n.*1298C>A
NM_001365307.2:c.*1298C>A NP_001352236.1:n.*1298C>A
NM_184041.2:c.789C>A NP_908930.1:p.Pro263=
NM_184041.3:c.789C>A NP_908930.1:p.Pro263=
NM_184041.4:c.789C>A NP_908930.1:p.Pro263=
NM_184041.5:c.789C>A NP_908930.1:p.Pro263=
NM_184043.2:c.789C>A NP_908932.1:p.Pro263=
ENST00000338110.10:c.*1298C>A ENSP00000336927.6:n.*1298C>A
ENST00000338110.11:c.*1298C>A ENSP00000336927.6:n.*1298C>A
ENST00000338110.9:c.789C>A ENSP00000336927.5:p.Pro263=
ENST00000395240.7:c.801C>A ENSP00000378661.3:p.Pro267=
ENST00000395248.5:c.951C>A ENSP00000378669.1:p.Pro317=
ENST00000395248.6:c.*971C>A ENSP00000378669.2:n.*971C>A
ENST00000412304.6:c.789C>A ENSP00000400452.2:p.Pro263=
ENST00000563060.6:c.789C>A ENSP00000455800.2:p.Pro263=
ENST00000564521.6:n.1983C>A
ENST00000564546.5:c.789C>A ENSP00000455917.1:p.Pro263=
ENST00000564595.6:c.951C>A ENSP00000457468.2:p.Pro317=
ENST00000564688.1:c.540C>A ENSP00000457514.1:p.Pro180=
ENST00000565355.1:c.86C>A
ENST00000566130.1:n.293C>A
ENST00000566897.5:c.789C>A ENSP00000455724.1:p.Pro263=
ENST00000566897.6:c.*1298C>A ENSP00000455724.2:n.*1298C>A
ENST00000569545.5:c.789C>A ENSP00000455700.1:p.Pro263=
ENST00000569798.5:c.789C>A ENSP00000455857.1:p.Pro263=
ENST00000627059.2:c.801C>A ENSP00000485952.1:p.Pro267=
ENST00000643777.4:c.789C>A ENSP00000494188.2:p.Pro263=
XM_011545767.1:c.789C>A XP_011544069.1:p.Pro263=
XM_011545768.1:c.789C>A XP_011544070.1:p.Pro263=
XM_024450192.1:c.789C>A XP_024305960.1:p.Pro263=
XM_024450193.1:c.789C>A XP_024305961.1:p.Pro263=