Canonical Allele Identifier: CA1580446970

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559244C= , CM000667.2:g.126559244C=	GRCh38
NC_000005.9:g.125894936C= , CM000667.1:g.125894936C=	GRCh37
NC_000005.8:g.125922835C=	NCBI36
NG_008600.2:g.41147G=
NG_008600.3:g.41147G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1004G= MANE Select	ENSP00000387123.3:p.Arg335=
ENST00000458249.6:c.*913G=	ENSP00000403929.1:n.*913G=
ENST00000497231.7:n.1431G=
ENST00000503281.6:c.593G=
ENST00000509459.6:c.513G=
ENST00000635851.1:c.1002G=
ENST00000636062.1:n.899G=
ENST00000636225.1:c.*948G=	ENSP00000490797.1:n.*948G=
ENST00000636286.1:n.722G=
ENST00000636482.1:n.491G=
ENST00000636743.1:c.884G=	ENSP00000489725.1:p.Arg295=
ENST00000636808.1:c.*813G=	ENSP00000490833.1:n.*813G=
ENST00000636872.1:c.1164G=	ENSP00000490919.1:n.1164G=
ENST00000636879.1:c.1049G=	ENSP00000490811.1:p.Arg350=
ENST00000636886.1:c.803G=	ENSP00000490371.1:p.Arg268=
ENST00000637206.1:c.913+1839G=	ENSP00000489895.1:n.913+1839G=
ENST00000637272.1:c.995G=	ENSP00000489686.1:p.Arg332=
ENST00000637292.1:c.577G=
ENST00000637782.1:c.1004G=	ENSP00000490024.1:p.Arg335=
ENST00000637964.1:c.950G=	ENSP00000490291.1:p.Arg317=
ENST00000638008.1:c.*848G=	ENSP00000490400.1:n.*848G=
ENST00000409134.7:c.1004G=	ENSP00000387123.3:p.Arg335=
ENST00000447989.6:c.1085G=	ENSP00000414132.2:p.Arg362=
ENST00000497231.6:n.1214G=
ENST00000503281.5:c.593G=
ENST00000509459.5:c.513G=
ENST00000553117.5:c.1004G=	ENSP00000448593.1:p.Arg335=
NM_001182.4:c.1004G=	NP_001173.2:p.Arg335=
NM_001201377.1:c.920G=	NP_001188306.1:p.Arg307=
NM_001202404.1:c.1085G=	NP_001189333.1:p.Arg362=
XM_011543417.1:c.599G=	XP_011541719.1:p.Arg200=
XM_011543417.2:c.599G=	XP_011541719.1:p.Arg200=
NM_001182.5:c.1004G= MANE Select	NP_001173.2:p.Arg335=
NM_001201377.2:c.920G=	NP_001188306.1:p.Arg307=
NM_001202404.2:c.1004G=	NP_001189333.2:p.Arg335=