Canonical Allele Identifier: CA360729527

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126568358T>C , CM000667.2:g.126568358T>C	GRCh38
NC_000005.9:g.125904050T>C , CM000667.1:g.125904050T>C	GRCh37
NC_000005.8:g.125931949T>C	NCBI36
NG_008600.2:g.32033A>G
NG_008600.3:g.32033A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.774-2A>G MANE Select	NP_001173.2:n.774-2A>G
ENST00000409134.8:c.774-2A>G MANE Select	ENSP00000387123.3:n.774-2A>G
NM_001182.4:c.774-2A>G	NP_001173.2:n.774-2A>G
NM_001201377.1:c.690-2A>G	NP_001188306.1:n.690-2A>G
NM_001201377.2:c.690-2A>G	NP_001188306.1:n.690-2A>G
NM_001202404.1:c.855-2A>G	NP_001189333.1:n.855-2A>G
NM_001202404.2:c.774-2A>G	NP_001189333.2:n.774-2A>G
ENST00000409134.7:c.774-2A>G	ENSP00000387123.3:n.774-2A>G
ENST00000413020.5:c.774-2A>G	ENSP00000487936.1:n.774-2A>G
ENST00000413020.6:c.774-2A>G	ENSP00000487936.1:n.774-2A>G
ENST00000433026.5:n.301-2A>G
ENST00000447989.6:c.855-2A>G	ENSP00000414132.2:n.855-2A>G
ENST00000458249.5:c.934-2A>G	ENSP00000403929.1:n.934-2A>G
ENST00000458249.6:c.*683-2A>G	ENSP00000403929.1:n.*683-2A>G
ENST00000503281.5:c.363-2A>G
ENST00000503281.6:c.363-2A>G
ENST00000509459.5:c.322-2A>G
ENST00000509459.6:c.322-2A>G
ENST00000510111.6:c.687-2A>G	ENSP00000447388.1:n.687-2A>G
ENST00000511266.6:n.1496-2A>G
ENST00000553117.5:c.774-2A>G	ENSP00000448593.1:n.774-2A>G
ENST00000635851.1:c.772-2A>G
ENST00000636062.1:n.669-2A>G
ENST00000636225.1:c.*583-2A>G	ENSP00000490797.1:n.*583-2A>G
ENST00000636286.1:n.492-2A>G
ENST00000636743.1:c.654-2A>G	ENSP00000489725.1:n.654-2A>G
ENST00000636808.1:c.*583-2A>G	ENSP00000490833.1:n.*583-2A>G
ENST00000636872.1:c.934-2A>G	ENSP00000490919.1:n.934-2A>G
ENST00000636879.1:c.819-2A>G	ENSP00000490811.1:n.819-2A>G
ENST00000636886.1:c.573-2A>G	ENSP00000490371.1:n.573-2A>G
ENST00000636892.1:n.2780A>G
ENST00000637206.1:c.774-2A>G	ENSP00000489895.1:n.774-2A>G
ENST00000637272.1:c.774-2A>G	ENSP00000489686.1:n.774-2A>G
ENST00000637292.1:c.426+2424A>G
ENST00000637782.1:c.774-2A>G	ENSP00000490024.1:n.774-2A>G
ENST00000637964.1:c.720-2A>G	ENSP00000490291.1:n.720-2A>G
ENST00000638008.1:c.*715+2424A>G	ENSP00000490400.1:n.*715+2424A>G
XM_011543417.1:c.369-2A>G	XP_011541719.1:n.369-2A>G
XM_011543417.2:c.369-2A>G	XP_011541719.1:n.369-2A>G