Canonical Allele Identifier: CA126887547

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554281C>T , CM000667.2:g.126554281C>T	GRCh38
NC_000005.9:g.125889973C>T , CM000667.1:g.125889973C>T	GRCh37
NC_000005.8:g.125917872C>T	NCBI36
NG_008600.2:g.46110G>A
NG_008600.3:g.46110G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1200+6G>A MANE Select	NP_001173.2:n.1200+6G>A
ENST00000409134.8:c.1200+6G>A MANE Select	ENSP00000387123.3:n.1200+6G>A
NM_001182.4:c.1200+6G>A	NP_001173.2:n.1200+6G>A
NM_001201377.1:c.1116+6G>A	NP_001188306.1:n.1116+6G>A
NM_001201377.2:c.1116+6G>A	NP_001188306.1:n.1116+6G>A
NM_001202404.1:c.1090-2144G>A	NP_001189333.1:n.1090-2144G>A
NM_001202404.2:c.1009-2144G>A	NP_001189333.2:n.1009-2144G>A
ENST00000409134.7:c.1200+6G>A	ENSP00000387123.3:n.1200+6G>A
ENST00000447989.6:c.1090-2144G>A	ENSP00000414132.2:n.1090-2144G>A
ENST00000458249.6:c.*1109+6G>A	ENSP00000403929.1:n.*1109+6G>A
ENST00000497231.6:n.1410+6G>A
ENST00000497231.7:n.1627+6G>A
ENST00000503281.5:c.789+6G>A
ENST00000503281.6:c.789+6G>A
ENST00000553117.5:c.1009-2144G>A	ENSP00000448593.1:n.1009-2144G>A
ENST00000635851.1:c.1198+6G>A
ENST00000636062.1:n.1095+6G>A
ENST00000636225.1:c.*1144+6G>A	ENSP00000490797.1:n.*1144+6G>A
ENST00000636286.1:n.918+6G>A
ENST00000636482.1:n.687+6G>A
ENST00000636743.1:c.1080+6G>A	ENSP00000489725.1:n.1080+6G>A
ENST00000636808.1:c.*1009+6G>A	ENSP00000490833.1:n.*1009+6G>A
ENST00000636872.1:c.1360+6G>A	ENSP00000490919.1:n.1360+6G>A
ENST00000636879.1:c.1245+6G>A	ENSP00000490811.1:n.1245+6G>A
ENST00000636886.1:c.999+6G>A	ENSP00000490371.1:n.999+6G>A
ENST00000637206.1:c.1020+6G>A	ENSP00000489895.1:n.1020+6G>A
ENST00000637272.1:c.1191+6G>A	ENSP00000489686.1:n.1191+6G>A
ENST00000637292.1:c.773+6G>A
ENST00000637782.1:c.1200+6G>A	ENSP00000490024.1:n.1200+6G>A
ENST00000638008.1:c.*1044+6G>A	ENSP00000490400.1:n.*1044+6G>A
ENST00000638010.1:n.1146+6G>A
XM_011543417.1:c.795+6G>A	XP_011541719.1:n.795+6G>A
XM_011543417.2:c.795+6G>A	XP_011541719.1:n.795+6G>A