Canonical Allele Identifier: CA8000887

Gene: ALDOA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30067506C>T , CM000678.2:g.30067506C>T	GRCh38
NC_000016.9:g.30078827C>T , CM000678.1:g.30078827C>T	GRCh37
NC_000016.8:g.29986328C>T	NCBI36
NG_008010.1:g.19337C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001243177.4:c.331C>T MANE Select	NP_001230106.1:p.Arg111Cys
ENST00000642816.3:c.331C>T MANE Select	ENSP00000496166.1:p.Arg111Cys
NM_000034.3:c.169C>T	NP_000025.1:p.Arg57Cys
NM_001127617.2:c.169C>T	NP_001121089.1:p.Arg57Cys
NM_001243177.1:c.331C>T	NP_001230106.1:p.Arg111Cys
NM_001243177.2:c.331C>T	NP_001230106.1:p.Arg111Cys
NM_001243177.3:c.331C>T	NP_001230106.1:p.Arg111Cys
NM_001365304.1:c.*678C>T	NP_001352233.1:n.*678C>T
NM_001365304.2:c.*678C>T	NP_001352233.1:n.*678C>T
NM_001365305.1:c.*678C>T	NP_001352234.1:n.*678C>T
NM_001365305.2:c.*678C>T	NP_001352234.1:n.*678C>T
NM_001365307.1:c.*678C>T	NP_001352236.1:n.*678C>T
NM_001365307.2:c.*678C>T	NP_001352236.1:n.*678C>T
NM_184041.2:c.169C>T	NP_908930.1:p.Arg57Cys
NM_184041.3:c.169C>T	NP_908930.1:p.Arg57Cys
NM_184041.4:c.169C>T	NP_908930.1:p.Arg57Cys
NM_184041.5:c.169C>T	NP_908930.1:p.Arg57Cys
NM_184043.2:c.169C>T	NP_908932.1:p.Arg57Cys
ENST00000338110.10:c.*678C>T	ENSP00000336927.6:n.*678C>T
ENST00000338110.11:c.*678C>T	ENSP00000336927.6:n.*678C>T
ENST00000338110.9:c.169C>T	ENSP00000336927.5:p.Arg57Cys
ENST00000395240.7:c.169C>T	ENSP00000378661.3:p.Arg57Cys
ENST00000395248.5:c.331C>T	ENSP00000378669.1:p.Arg111Cys
ENST00000395248.6:c.*351C>T	ENSP00000378669.2:n.*351C>T
ENST00000412304.6:c.169C>T	ENSP00000400452.2:p.Arg57Cys
ENST00000562168.5:c.136C>T	ENSP00000456020.1:p.Arg46Cys
ENST00000562679.5:c.331C>T	ENSP00000455455.1:p.Arg111Cys
ENST00000563060.6:c.169C>T	ENSP00000455800.2:p.Arg57Cys
ENST00000563987.5:c.169C>T	ENSP00000457643.1:p.Arg57Cys
ENST00000564521.6:n.262C>T
ENST00000564546.5:c.169C>T	ENSP00000455917.1:p.Arg57Cys
ENST00000564595.6:c.331C>T	ENSP00000457468.2:p.Arg111Cys
ENST00000564688.1:c.4C>T	ENSP00000457514.1:p.Arg2Cys
ENST00000566012.1:n.327C>T
ENST00000566846.5:c.136C>T	ENSP00000454499.1:p.Arg46Cys
ENST00000566897.5:c.169C>T	ENSP00000455724.1:p.Arg57Cys
ENST00000566897.6:c.*678C>T	ENSP00000455724.2:n.*678C>T
ENST00000567555.1:n.439C>T
ENST00000569545.5:c.169C>T	ENSP00000455700.1:p.Arg57Cys
ENST00000569798.5:c.169C>T	ENSP00000455857.1:p.Arg57Cys
ENST00000627059.2:c.169C>T	ENSP00000485952.1:p.Arg57Cys
ENST00000643777.4:c.169C>T	ENSP00000494188.2:p.Arg57Cys
XM_011545767.1:c.169C>T	XP_011544069.1:p.Arg57Cys
XM_011545768.1:c.169C>T	XP_011544070.1:p.Arg57Cys
XM_024450192.1:c.169C>T	XP_024305960.1:p.Arg57Cys
XM_024450193.1:c.169C>T	XP_024305961.1:p.Arg57Cys