Canonical Allele Identifier: CA360726854

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559332A>T , CM000667.2:g.126559332A>T	GRCh38
NC_000005.9:g.125895024A>T , CM000667.1:g.125895024A>T	GRCh37
NC_000005.8:g.125922923A>T	NCBI36
NG_008600.2:g.41059T>A
NG_008600.3:g.41059T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.916T>A MANE Select	NP_001173.2:p.Phe306Ile
ENST00000409134.8:c.916T>A MANE Select	ENSP00000387123.3:p.Phe306Ile
NM_001182.4:c.916T>A	NP_001173.2:p.Phe306Ile
NM_001201377.1:c.832T>A	NP_001188306.1:p.Phe278Ile
NM_001201377.2:c.832T>A	NP_001188306.1:p.Phe278Ile
NM_001202404.1:c.997T>A	NP_001189333.1:p.Phe333Ile
NM_001202404.2:c.916T>A	NP_001189333.2:p.Phe306Ile
ENST00000409134.7:c.916T>A	ENSP00000387123.3:p.Phe306Ile
ENST00000447989.6:c.997T>A	ENSP00000414132.2:p.Phe333Ile
ENST00000458249.6:c.*825T>A	ENSP00000403929.1:n.*825T>A
ENST00000497231.6:n.1126T>A
ENST00000497231.7:n.1343T>A
ENST00000503281.5:c.505T>A
ENST00000503281.6:c.505T>A
ENST00000509459.5:c.462-37T>A
ENST00000509459.6:c.462-37T>A
ENST00000553117.5:c.916T>A	ENSP00000448593.1:p.Phe306Ile
ENST00000635851.1:c.914T>A
ENST00000636062.1:n.811T>A
ENST00000636225.1:c.*860T>A	ENSP00000490797.1:n.*860T>A
ENST00000636286.1:n.634T>A
ENST00000636482.1:n.403T>A
ENST00000636743.1:c.796T>A	ENSP00000489725.1:p.Phe266Ile
ENST00000636808.1:c.*725T>A	ENSP00000490833.1:n.*725T>A
ENST00000636872.1:c.1076T>A	ENSP00000490919.1:n.1076T>A
ENST00000636879.1:c.961T>A	ENSP00000490811.1:p.Phe321Ile
ENST00000636886.1:c.715T>A	ENSP00000490371.1:p.Phe239Ile
ENST00000637206.1:c.913+1751T>A	ENSP00000489895.1:n.913+1751T>A
ENST00000637272.1:c.914-7T>A	ENSP00000489686.1:n.914-7T>A
ENST00000637292.1:c.489T>A
ENST00000637782.1:c.916T>A	ENSP00000490024.1:p.Phe306Ile
ENST00000637964.1:c.862T>A	ENSP00000490291.1:p.Phe288Ile
ENST00000638008.1:c.*760T>A	ENSP00000490400.1:n.*760T>A
XM_011543417.1:c.511T>A	XP_011541719.1:p.Phe171Ile
XM_011543417.2:c.511T>A	XP_011541719.1:p.Phe171Ile