Canonical Allele Identifier: CA360726645

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559265T>C , CM000667.2:g.126559265T>C	GRCh38
NC_000005.9:g.125894957T>C , CM000667.1:g.125894957T>C	GRCh37
NC_000005.8:g.125922856T>C	NCBI36
NG_008600.2:g.41126A>G
NG_008600.3:g.41126A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.983A>G MANE Select	NP_001173.2:p.Gln328Arg
ENST00000409134.8:c.983A>G MANE Select	ENSP00000387123.3:p.Gln328Arg
NM_001182.4:c.983A>G	NP_001173.2:p.Gln328Arg
NM_001201377.1:c.899A>G	NP_001188306.1:p.Gln300Arg
NM_001201377.2:c.899A>G	NP_001188306.1:p.Gln300Arg
NM_001202404.1:c.1064A>G	NP_001189333.1:p.Gln355Arg
NM_001202404.2:c.983A>G	NP_001189333.2:p.Gln328Arg
ENST00000409134.7:c.983A>G	ENSP00000387123.3:p.Gln328Arg
ENST00000447989.6:c.1064A>G	ENSP00000414132.2:p.Gln355Arg
ENST00000458249.6:c.*892A>G	ENSP00000403929.1:n.*892A>G
ENST00000497231.6:n.1193A>G
ENST00000497231.7:n.1410A>G
ENST00000503281.5:c.572A>G
ENST00000503281.6:c.572A>G
ENST00000509459.5:c.492A>G
ENST00000509459.6:c.492A>G
ENST00000553117.5:c.983A>G	ENSP00000448593.1:p.Gln328Arg
ENST00000635851.1:c.981A>G
ENST00000636062.1:n.878A>G
ENST00000636225.1:c.*927A>G	ENSP00000490797.1:n.*927A>G
ENST00000636286.1:n.701A>G
ENST00000636482.1:n.470A>G
ENST00000636743.1:c.863A>G	ENSP00000489725.1:p.Gln288Arg
ENST00000636808.1:c.*792A>G	ENSP00000490833.1:n.*792A>G
ENST00000636872.1:c.1143A>G	ENSP00000490919.1:n.1143A>G
ENST00000636879.1:c.1028A>G	ENSP00000490811.1:p.Gln343Arg
ENST00000636886.1:c.782A>G	ENSP00000490371.1:p.Gln261Arg
ENST00000637206.1:c.913+1818A>G	ENSP00000489895.1:n.913+1818A>G
ENST00000637272.1:c.974A>G	ENSP00000489686.1:p.Gln325Arg
ENST00000637292.1:c.556A>G
ENST00000637782.1:c.983A>G	ENSP00000490024.1:p.Gln328Arg
ENST00000637964.1:c.929A>G	ENSP00000490291.1:p.Gln310Arg
ENST00000638008.1:c.*827A>G	ENSP00000490400.1:n.*827A>G
XM_011543417.1:c.578A>G	XP_011541719.1:p.Gln193Arg
XM_011543417.2:c.578A>G	XP_011541719.1:p.Gln193Arg