Canonical Allele Identifier: CA3389573

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559283G>A , CM000667.2:g.126559283G>A	GRCh38
NC_000005.9:g.125894975G>A , CM000667.1:g.125894975G>A	GRCh37
NC_000005.8:g.125922874G>A	NCBI36
NG_008600.2:g.41108C>T
NG_008600.3:g.41108C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.965C>T MANE Select	NP_001173.2:p.Ala322Val
ENST00000409134.8:c.965C>T MANE Select	ENSP00000387123.3:p.Ala322Val
NM_001182.4:c.965C>T	NP_001173.2:p.Ala322Val
NM_001201377.1:c.881C>T	NP_001188306.1:p.Ala294Val
NM_001201377.2:c.881C>T	NP_001188306.1:p.Ala294Val
NM_001202404.1:c.1046C>T	NP_001189333.1:p.Ala349Val
NM_001202404.2:c.965C>T	NP_001189333.2:p.Ala322Val
ENST00000409134.7:c.965C>T	ENSP00000387123.3:p.Ala322Val
ENST00000447989.6:c.1046C>T	ENSP00000414132.2:p.Ala349Val
ENST00000458249.6:c.*874C>T	ENSP00000403929.1:n.*874C>T
ENST00000497231.6:n.1175C>T
ENST00000497231.7:n.1392C>T
ENST00000503281.5:c.554C>T
ENST00000503281.6:c.554C>T
ENST00000509459.5:c.474C>T
ENST00000509459.6:c.474C>T
ENST00000553117.5:c.965C>T	ENSP00000448593.1:p.Ala322Val
ENST00000635851.1:c.963C>T
ENST00000636062.1:n.860C>T
ENST00000636225.1:c.*909C>T	ENSP00000490797.1:n.*909C>T
ENST00000636286.1:n.683C>T
ENST00000636482.1:n.452C>T
ENST00000636743.1:c.845C>T	ENSP00000489725.1:p.Ala282Val
ENST00000636808.1:c.*774C>T	ENSP00000490833.1:n.*774C>T
ENST00000636872.1:c.1125C>T	ENSP00000490919.1:n.1125C>T
ENST00000636879.1:c.1010C>T	ENSP00000490811.1:p.Ala337Val
ENST00000636886.1:c.764C>T	ENSP00000490371.1:p.Ala255Val
ENST00000637206.1:c.913+1800C>T	ENSP00000489895.1:n.913+1800C>T
ENST00000637272.1:c.956C>T	ENSP00000489686.1:p.Ala319Val
ENST00000637292.1:c.538C>T
ENST00000637782.1:c.965C>T	ENSP00000490024.1:p.Ala322Val
ENST00000637964.1:c.911C>T	ENSP00000490291.1:p.Ala304Val
ENST00000638008.1:c.*809C>T	ENSP00000490400.1:n.*809C>T
XM_011543417.1:c.560C>T	XP_011541719.1:p.Ala187Val
XM_011543417.2:c.560C>T	XP_011541719.1:p.Ala187Val