Canonical Allele Identifier: CA446281297

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126555989C>T , CM000667.2:g.126555989C>T	GRCh38
NC_000005.9:g.125891681C>T , CM000667.1:g.125891681C>T	GRCh37
NC_000005.8:g.125919580C>T	NCBI36
NG_008600.2:g.44402G>A
NG_008600.3:g.44402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1035G>A MANE Select	ENSP00000387123.3:p.Glu345=
ENST00000458249.6:c.*944G>A	ENSP00000403929.1:n.*944G>A
ENST00000497231.7:n.1462G>A
ENST00000503281.6:c.624G>A
ENST00000635851.1:c.1033G>A
ENST00000636062.1:n.930G>A
ENST00000636225.1:c.*979G>A	ENSP00000490797.1:n.*979G>A
ENST00000636286.1:n.753G>A
ENST00000636482.1:n.522G>A
ENST00000636743.1:c.915G>A	ENSP00000489725.1:p.Glu305=
ENST00000636808.1:c.*844G>A	ENSP00000490833.1:n.*844G>A
ENST00000636872.1:c.1195G>A	ENSP00000490919.1:n.1195G>A
ENST00000636879.1:c.1080G>A	ENSP00000490811.1:p.Glu360=
ENST00000636886.1:c.834G>A	ENSP00000490371.1:p.Glu278=
ENST00000637206.1:c.914-1596G>A	ENSP00000489895.1:n.914-1596G>A
ENST00000637272.1:c.1026G>A	ENSP00000489686.1:p.Glu342=
ENST00000637292.1:c.608G>A
ENST00000637782.1:c.1035G>A	ENSP00000490024.1:p.Glu345=
ENST00000637964.1:c.981G>A	ENSP00000490291.1:p.Glu327=
ENST00000638008.1:c.*879G>A	ENSP00000490400.1:n.*879G>A
ENST00000409134.7:c.1035G>A	ENSP00000387123.3:p.Glu345=
ENST00000447989.6:c.1089+3251G>A	ENSP00000414132.2:n.1089+3251G>A
ENST00000497231.6:n.1245G>A
ENST00000503281.5:c.624G>A
ENST00000553117.5:c.1008+3251G>A	ENSP00000448593.1:n.1008+3251G>A
NM_001182.4:c.1035G>A	NP_001173.2:p.Glu345=
NM_001201377.1:c.951G>A	NP_001188306.1:p.Glu317=
NM_001202404.1:c.1089+3251G>A	NP_001189333.1:n.1089+3251G>A
XM_011543417.1:c.630G>A	XP_011541719.1:p.Glu210=
XM_011543417.2:c.630G>A	XP_011541719.1:p.Glu210=
NM_001182.5:c.1035G>A MANE Select	NP_001173.2:p.Glu345=
NM_001201377.2:c.951G>A	NP_001188306.1:p.Glu317=
NM_001202404.2:c.1008+3251G>A	NP_001189333.2:n.1008+3251G>A