Canonical Allele Identifier: CA360730928

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577080A>T , CM000667.2:g.126577080A>T	GRCh38
NC_000005.9:g.125912772A>T , CM000667.1:g.125912772A>T	GRCh37
NC_000005.8:g.125940671A>T	NCBI36
NG_008600.2:g.23311T>A
NG_008600.3:g.23311T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.649T>A MANE Select	ENSP00000387123.3:p.Trp217Arg
ENST00000412186.2:c.525T>A	ENSP00000414536.2:n.525T>A
ENST00000413020.6:c.649T>A	ENSP00000487936.1:p.Trp217Arg
ENST00000458249.6:c.*558T>A	ENSP00000403929.1:n.*558T>A
ENST00000503281.6:c.238T>A
ENST00000509459.6:c.197T>A
ENST00000511266.6:n.1371T>A
ENST00000635851.1:c.647T>A
ENST00000636062.1:n.544T>A
ENST00000636225.1:c.*458T>A	ENSP00000490797.1:n.*458T>A
ENST00000636286.1:n.367T>A
ENST00000636743.1:c.529T>A	ENSP00000489725.1:p.Trp177Arg
ENST00000636808.1:c.*458T>A	ENSP00000490833.1:n.*458T>A
ENST00000636872.1:c.809T>A	ENSP00000490919.1:n.809T>A
ENST00000636879.1:c.694T>A	ENSP00000490811.1:p.Trp232Arg
ENST00000636886.1:c.448T>A	ENSP00000490371.1:p.Trp150Arg
ENST00000637206.1:c.649T>A	ENSP00000489895.1:p.Trp217Arg
ENST00000637272.1:c.649T>A	ENSP00000489686.1:p.Trp217Arg
ENST00000637292.1:c.302T>A
ENST00000637782.1:c.649T>A	ENSP00000490024.1:p.Trp217Arg
ENST00000637964.1:c.595T>A	ENSP00000490291.1:p.Trp199Arg
ENST00000638008.1:c.*591T>A	ENSP00000490400.1:n.*591T>A
ENST00000409134.7:c.649T>A	ENSP00000387123.3:p.Trp217Arg
ENST00000413020.5:c.649T>A	ENSP00000487936.1:p.Trp217Arg
ENST00000433026.5:n.176T>A
ENST00000447989.6:c.730T>A	ENSP00000414132.2:p.Trp244Arg
ENST00000458249.5:c.809T>A	ENSP00000403929.1:n.809T>A
ENST00000503281.5:c.238T>A
ENST00000509459.5:c.197T>A
ENST00000510111.6:c.562T>A	ENSP00000447388.1:p.Trp188Arg
ENST00000511266.5:n.480T>A
ENST00000553117.5:c.649T>A	ENSP00000448593.1:p.Trp217Arg
NM_001182.4:c.649T>A	NP_001173.2:p.Trp217Arg
NM_001201377.1:c.565T>A	NP_001188306.1:p.Trp189Arg
NM_001202404.1:c.730T>A	NP_001189333.1:p.Trp244Arg
XM_011543417.1:c.244T>A	XP_011541719.1:p.Trp82Arg
XM_011543417.2:c.244T>A	XP_011541719.1:p.Trp82Arg
NM_001182.5:c.649T>A MANE Select	NP_001173.2:p.Trp217Arg
NM_001201377.2:c.565T>A	NP_001188306.1:p.Trp189Arg
NM_001202404.2:c.649T>A	NP_001189333.2:p.Trp217Arg