Canonical Allele Identifier: CA126909697

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577124C>T , CM000667.2:g.126577124C>T	GRCh38
NC_000005.9:g.125912816C>T , CM000667.1:g.125912816C>T	GRCh37
NC_000005.8:g.125940715C>T	NCBI36
NG_008600.2:g.23267G>A
NG_008600.3:g.23267G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.605G>A MANE Select	NP_001173.2:p.Gly202Asp
ENST00000409134.8:c.605G>A MANE Select	ENSP00000387123.3:p.Gly202Asp
NM_001182.4:c.605G>A	NP_001173.2:p.Gly202Asp
NM_001201377.1:c.521G>A	NP_001188306.1:p.Gly174Asp
NM_001201377.2:c.521G>A	NP_001188306.1:p.Gly174Asp
NM_001202404.1:c.686G>A	NP_001189333.1:p.Gly229Asp
NM_001202404.2:c.605G>A	NP_001189333.2:p.Gly202Asp
ENST00000409134.7:c.605G>A	ENSP00000387123.3:p.Gly202Asp
ENST00000412186.2:c.481G>A	ENSP00000414536.2:n.481G>A
ENST00000413020.5:c.605G>A	ENSP00000487936.1:p.Gly202Asp
ENST00000413020.6:c.605G>A	ENSP00000487936.1:p.Gly202Asp
ENST00000433026.5:n.132G>A
ENST00000447989.6:c.686G>A	ENSP00000414132.2:p.Gly229Asp
ENST00000458249.5:c.765G>A	ENSP00000403929.1:n.765G>A
ENST00000458249.6:c.*514G>A	ENSP00000403929.1:n.*514G>A
ENST00000503281.5:c.194G>A
ENST00000503281.6:c.194G>A
ENST00000509270.2:c.539G>A	ENSP00000449318.2:p.Gly180Asp
ENST00000509459.5:c.153G>A
ENST00000509459.6:c.153G>A
ENST00000510111.6:c.518G>A	ENSP00000447388.1:p.Gly173Asp
ENST00000511266.5:n.436G>A
ENST00000511266.6:n.1327G>A
ENST00000553117.5:c.605G>A	ENSP00000448593.1:p.Gly202Asp
ENST00000635851.1:c.603G>A
ENST00000636062.1:n.500G>A
ENST00000636225.1:c.*414G>A	ENSP00000490797.1:n.*414G>A
ENST00000636286.1:n.323G>A
ENST00000636743.1:c.485G>A	ENSP00000489725.1:p.Gly162Asp
ENST00000636808.1:c.*414G>A	ENSP00000490833.1:n.*414G>A
ENST00000636872.1:c.765G>A	ENSP00000490919.1:n.765G>A
ENST00000636879.1:c.650G>A	ENSP00000490811.1:p.Gly217Asp
ENST00000636886.1:c.404G>A	ENSP00000490371.1:p.Gly135Asp
ENST00000637206.1:c.605G>A	ENSP00000489895.1:p.Gly202Asp
ENST00000637272.1:c.605G>A	ENSP00000489686.1:p.Gly202Asp
ENST00000637292.1:c.258G>A
ENST00000637782.1:c.605G>A	ENSP00000490024.1:p.Gly202Asp
ENST00000637964.1:c.551G>A	ENSP00000490291.1:p.Gly184Asp
ENST00000638008.1:c.*547G>A	ENSP00000490400.1:n.*547G>A
XM_011543417.1:c.200G>A	XP_011541719.1:p.Gly67Asp
XM_011543417.2:c.200G>A	XP_011541719.1:p.Gly67Asp