Canonical Allele Identifier: CA3389756

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582846C>T , CM000667.2:g.126582846C>T	GRCh38
NC_000005.9:g.125918538C>T , CM000667.1:g.125918538C>T	GRCh37
NC_000005.8:g.125946437C>T	NCBI36
NG_008600.2:g.17545G>A
NG_008600.3:g.17545G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.517+5G>A MANE Select	NP_001173.2:n.517+5G>A
ENST00000409134.8:c.517+5G>A MANE Select	ENSP00000387123.3:n.517+5G>A
NM_001182.4:c.517+5G>A	NP_001173.2:n.517+5G>A
NM_001201377.1:c.433+5G>A	NP_001188306.1:n.433+5G>A
NM_001201377.2:c.433+5G>A	NP_001188306.1:n.433+5G>A
NM_001202404.1:c.598+5G>A	NP_001189333.1:n.598+5G>A
NM_001202404.2:c.517+5G>A	NP_001189333.2:n.517+5G>A
ENST00000409134.7:c.517+5G>A	ENSP00000387123.3:n.517+5G>A
ENST00000412186.2:c.393+1086G>A	ENSP00000414536.2:n.393+1086G>A
ENST00000413020.5:c.517+5G>A	ENSP00000487936.1:n.517+5G>A
ENST00000413020.6:c.517+5G>A	ENSP00000487936.1:n.517+5G>A
ENST00000447989.6:c.598+5G>A	ENSP00000414132.2:n.598+5G>A
ENST00000458249.5:c.677+5G>A	ENSP00000403929.1:n.677+5G>A
ENST00000458249.6:c.*426+5G>A	ENSP00000403929.1:n.*426+5G>A
ENST00000503281.5:c.107-5635G>A
ENST00000503281.6:c.107-5635G>A
ENST00000509270.1:c.397+5G>A	ENSP00000449318.1:n.397+5G>A
ENST00000509270.2:c.451+5G>A	ENSP00000449318.2:n.451+5G>A
ENST00000509459.5:c.66-5635G>A
ENST00000509459.6:c.66-5635G>A
ENST00000510111.6:c.430+5G>A	ENSP00000447388.1:n.430+5G>A
ENST00000511266.5:n.348+1086G>A
ENST00000511266.6:n.1239+5G>A
ENST00000553117.5:c.517+5G>A	ENSP00000448593.1:n.517+5G>A
ENST00000635851.1:c.515+5G>A
ENST00000636062.1:n.412+5G>A
ENST00000636190.1:n.396+5G>A
ENST00000636225.1:c.*326+5G>A	ENSP00000490797.1:n.*326+5G>A
ENST00000636286.1:n.235+5G>A
ENST00000636743.1:c.397+5G>A	ENSP00000489725.1:n.397+5G>A
ENST00000636808.1:c.*326+5G>A	ENSP00000490833.1:n.*326+5G>A
ENST00000636872.1:c.677+5G>A	ENSP00000490919.1:n.677+5G>A
ENST00000636879.1:c.517+5G>A	ENSP00000490811.1:n.517+5G>A
ENST00000636886.1:c.316+5G>A	ENSP00000490371.1:n.316+5G>A
ENST00000637070.1:n.136G>A
ENST00000637206.1:c.517+5G>A	ENSP00000489895.1:n.517+5G>A
ENST00000637272.1:c.517+5G>A	ENSP00000489686.1:n.517+5G>A
ENST00000637292.1:c.170+5G>A
ENST00000637782.1:c.517+5G>A	ENSP00000490024.1:n.517+5G>A
ENST00000637964.1:c.463+5G>A	ENSP00000490291.1:n.463+5G>A
ENST00000638008.1:c.*459+5G>A	ENSP00000490400.1:n.*459+5G>A
XM_011543417.1:c.112+5G>A	XP_011541719.1:n.112+5G>A
XM_011543417.2:c.112+5G>A	XP_011541719.1:n.112+5G>A