Canonical Allele Identifier: CA360723741

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554291C>A , CM000667.2:g.126554291C>A	GRCh38
NC_000005.9:g.125889983C>A , CM000667.1:g.125889983C>A	GRCh37
NC_000005.8:g.125917882C>A	NCBI36
NG_008600.2:g.46100G>T
NG_008600.3:g.46100G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1196G>T MANE Select	NP_001173.2:p.Gly399Val
ENST00000409134.8:c.1196G>T MANE Select	ENSP00000387123.3:p.Gly399Val
NM_001182.4:c.1196G>T	NP_001173.2:p.Gly399Val
NM_001201377.1:c.1112G>T	NP_001188306.1:p.Gly371Val
NM_001201377.2:c.1112G>T	NP_001188306.1:p.Gly371Val
NM_001202404.1:c.1090-2154G>T	NP_001189333.1:n.1090-2154G>T
NM_001202404.2:c.1009-2154G>T	NP_001189333.2:n.1009-2154G>T
ENST00000409134.7:c.1196G>T	ENSP00000387123.3:p.Gly399Val
ENST00000447989.6:c.1090-2154G>T	ENSP00000414132.2:n.1090-2154G>T
ENST00000458249.6:c.*1105G>T	ENSP00000403929.1:n.*1105G>T
ENST00000497231.6:n.1406G>T
ENST00000497231.7:n.1623G>T
ENST00000503281.5:c.785G>T
ENST00000503281.6:c.785G>T
ENST00000553117.5:c.1009-2154G>T	ENSP00000448593.1:n.1009-2154G>T
ENST00000635851.1:c.1194G>T
ENST00000636062.1:n.1091G>T
ENST00000636225.1:c.*1140G>T	ENSP00000490797.1:n.*1140G>T
ENST00000636286.1:n.914G>T
ENST00000636482.1:n.683G>T
ENST00000636743.1:c.1076G>T	ENSP00000489725.1:p.Gly359Val
ENST00000636808.1:c.*1005G>T	ENSP00000490833.1:n.*1005G>T
ENST00000636872.1:c.1356G>T	ENSP00000490919.1:n.1356G>T
ENST00000636879.1:c.1241G>T	ENSP00000490811.1:p.Gly414Val
ENST00000636886.1:c.995G>T	ENSP00000490371.1:p.Gly332Val
ENST00000637206.1:c.1016G>T	ENSP00000489895.1:p.Gly339Val
ENST00000637272.1:c.1187G>T	ENSP00000489686.1:p.Gly396Val
ENST00000637292.1:c.769G>T
ENST00000637782.1:c.1196G>T	ENSP00000490024.1:p.Gly399Val
ENST00000638008.1:c.*1040G>T	ENSP00000490400.1:n.*1040G>T
ENST00000638010.1:n.1142G>T
XM_011543417.1:c.791G>T	XP_011541719.1:p.Gly264Val
XM_011543417.2:c.791G>T	XP_011541719.1:p.Gly264Val