Canonical Allele Identifier: CA3389543

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126555952G>A , CM000667.2:g.126555952G>A	GRCh38
NC_000005.9:g.125891644G>A , CM000667.1:g.125891644G>A	GRCh37
NC_000005.8:g.125919543G>A	NCBI36
NG_008600.2:g.44439C>T
NG_008600.3:g.44439C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1072C>T MANE Select	NP_001173.2:p.Arg358Ter
ENST00000409134.8:c.1072C>T MANE Select	ENSP00000387123.3:p.Arg358Ter
NM_001182.4:c.1072C>T	NP_001173.2:p.Arg358Ter
NM_001201377.1:c.988C>T	NP_001188306.1:p.Arg330Ter
NM_001201377.2:c.988C>T	NP_001188306.1:p.Arg330Ter
NM_001202404.1:c.1089+3288C>T	NP_001189333.1:n.1089+3288C>T
NM_001202404.2:c.1008+3288C>T	NP_001189333.2:n.1008+3288C>T
ENST00000409134.7:c.1072C>T	ENSP00000387123.3:p.Arg358Ter
ENST00000447989.6:c.1089+3288C>T	ENSP00000414132.2:n.1089+3288C>T
ENST00000458249.6:c.*981C>T	ENSP00000403929.1:n.*981C>T
ENST00000497231.6:n.1282C>T
ENST00000497231.7:n.1499C>T
ENST00000503281.5:c.661C>T
ENST00000503281.6:c.661C>T
ENST00000553117.5:c.1008+3288C>T	ENSP00000448593.1:n.1008+3288C>T
ENST00000635851.1:c.1070C>T
ENST00000636062.1:n.967C>T
ENST00000636225.1:c.*1016C>T	ENSP00000490797.1:n.*1016C>T
ENST00000636286.1:n.790C>T
ENST00000636482.1:n.559C>T
ENST00000636743.1:c.952C>T	ENSP00000489725.1:p.Arg318Ter
ENST00000636808.1:c.*881C>T	ENSP00000490833.1:n.*881C>T
ENST00000636872.1:c.1232C>T	ENSP00000490919.1:n.1232C>T
ENST00000636879.1:c.1117C>T	ENSP00000490811.1:p.Arg373Ter
ENST00000636886.1:c.871C>T	ENSP00000490371.1:p.Arg291Ter
ENST00000637206.1:c.914-1559C>T	ENSP00000489895.1:n.914-1559C>T
ENST00000637272.1:c.1063C>T	ENSP00000489686.1:p.Arg355Ter
ENST00000637292.1:c.645C>T
ENST00000637782.1:c.1072C>T	ENSP00000490024.1:p.Arg358Ter
ENST00000637964.1:c.1018C>T	ENSP00000490291.1:p.Arg340Ter
ENST00000638008.1:c.*916C>T	ENSP00000490400.1:n.*916C>T
XM_011543417.1:c.667C>T	XP_011541719.1:p.Arg223Ter
XM_011543417.2:c.667C>T	XP_011541719.1:p.Arg223Ter