Canonical Allele Identifier: CA446281787

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559327T>C , CM000667.2:g.126559327T>C	GRCh38
NC_000005.9:g.125895019T>C , CM000667.1:g.125895019T>C	GRCh37
NC_000005.8:g.125922918T>C	NCBI36
NG_008600.2:g.41064A>G
NG_008600.3:g.41064A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.921A>G MANE Select	NP_001173.2:p.Glu307=
ENST00000409134.8:c.921A>G MANE Select	ENSP00000387123.3:p.Glu307=
NM_001182.4:c.921A>G	NP_001173.2:p.Glu307=
NM_001201377.1:c.837A>G	NP_001188306.1:p.Glu279=
NM_001201377.2:c.837A>G	NP_001188306.1:p.Glu279=
NM_001202404.1:c.1002A>G	NP_001189333.1:p.Glu334=
NM_001202404.2:c.921A>G	NP_001189333.2:p.Glu307=
ENST00000409134.7:c.921A>G	ENSP00000387123.3:p.Glu307=
ENST00000447989.6:c.1002A>G	ENSP00000414132.2:p.Glu334=
ENST00000458249.6:c.*830A>G	ENSP00000403929.1:n.*830A>G
ENST00000497231.6:n.1131A>G
ENST00000497231.7:n.1348A>G
ENST00000503281.5:c.510A>G
ENST00000503281.6:c.510A>G
ENST00000509459.5:c.462-32A>G
ENST00000509459.6:c.462-32A>G
ENST00000553117.5:c.921A>G	ENSP00000448593.1:p.Glu307=
ENST00000635851.1:c.919A>G
ENST00000636062.1:n.816A>G
ENST00000636225.1:c.*865A>G	ENSP00000490797.1:n.*865A>G
ENST00000636286.1:n.639A>G
ENST00000636482.1:n.408A>G
ENST00000636743.1:c.801A>G	ENSP00000489725.1:p.Glu267=
ENST00000636808.1:c.*730A>G	ENSP00000490833.1:n.*730A>G
ENST00000636872.1:c.1081A>G	ENSP00000490919.1:n.1081A>G
ENST00000636879.1:c.966A>G	ENSP00000490811.1:p.Glu322=
ENST00000636886.1:c.720A>G	ENSP00000490371.1:p.Glu240=
ENST00000637206.1:c.913+1756A>G	ENSP00000489895.1:n.913+1756A>G
ENST00000637272.1:c.914-2A>G	ENSP00000489686.1:n.914-2A>G
ENST00000637292.1:c.494A>G
ENST00000637782.1:c.921A>G	ENSP00000490024.1:p.Glu307=
ENST00000637964.1:c.867A>G	ENSP00000490291.1:p.Glu289=
ENST00000638008.1:c.*765A>G	ENSP00000490400.1:n.*765A>G
XM_011543417.1:c.516A>G	XP_011541719.1:p.Glu172=
XM_011543417.2:c.516A>G	XP_011541719.1:p.Glu172=