Canonical Allele Identifier: CA446281181

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554377C>A , CM000667.2:g.126554377C>A	GRCh38
NC_000005.9:g.125890069C>A , CM000667.1:g.125890069C>A	GRCh37
NC_000005.8:g.125917968C>A	NCBI36
NG_008600.2:g.46014G>T
NG_008600.3:g.46014G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1110G>T MANE Select	ENSP00000387123.3:p.Gly370=
ENST00000458249.6:c.*1019G>T	ENSP00000403929.1:n.*1019G>T
ENST00000497231.7:n.1537G>T
ENST00000503281.6:c.699G>T
ENST00000635851.1:c.1108G>T
ENST00000636062.1:n.1005G>T
ENST00000636225.1:c.*1054G>T	ENSP00000490797.1:n.*1054G>T
ENST00000636286.1:n.828G>T
ENST00000636482.1:n.597G>T
ENST00000636743.1:c.990G>T	ENSP00000489725.1:p.Gly330=
ENST00000636808.1:c.*919G>T	ENSP00000490833.1:n.*919G>T
ENST00000636872.1:c.1270G>T	ENSP00000490919.1:n.1270G>T
ENST00000636879.1:c.1155G>T	ENSP00000490811.1:p.Gly385=
ENST00000636886.1:c.909G>T	ENSP00000490371.1:p.Gly303=
ENST00000637206.1:c.930G>T	ENSP00000489895.1:p.Gly310=
ENST00000637272.1:c.1101G>T	ENSP00000489686.1:p.Gly367=
ENST00000637292.1:c.683G>T
ENST00000637782.1:c.1110G>T	ENSP00000490024.1:p.Gly370=
ENST00000638008.1:c.*954G>T	ENSP00000490400.1:n.*954G>T
ENST00000638010.1:n.1056G>T
ENST00000409134.7:c.1110G>T	ENSP00000387123.3:p.Gly370=
ENST00000447989.6:c.1090-2240G>T	ENSP00000414132.2:n.1090-2240G>T
ENST00000497231.6:n.1320G>T
ENST00000503281.5:c.699G>T
ENST00000553117.5:c.1009-2240G>T	ENSP00000448593.1:n.1009-2240G>T
NM_001182.4:c.1110G>T	NP_001173.2:p.Gly370=
NM_001201377.1:c.1026G>T	NP_001188306.1:p.Gly342=
NM_001202404.1:c.1090-2240G>T	NP_001189333.1:n.1090-2240G>T
XM_011543417.1:c.705G>T	XP_011541719.1:p.Gly235=
XM_011543417.2:c.705G>T	XP_011541719.1:p.Gly235=
NM_001182.5:c.1110G>T MANE Select	NP_001173.2:p.Gly370=
NM_001201377.2:c.1026G>T	NP_001188306.1:p.Gly342=
NM_001202404.2:c.1009-2240G>T	NP_001189333.2:n.1009-2240G>T