Canonical Allele Identifier: CA1580447827

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126561094T= , CM000667.2:g.126561094T=	GRCh38
NC_000005.9:g.125896786T= , CM000667.1:g.125896786T=	GRCh37
NC_000005.8:g.125924685T=	NCBI36
NG_008600.2:g.39297A=
NG_008600.3:g.39297A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.902A= MANE Select	NP_001173.2:p.Asn301=
ENST00000409134.8:c.902A= MANE Select	ENSP00000387123.3:p.Asn301=
NM_001182.4:c.902A=	NP_001173.2:p.Asn301=
NM_001201377.1:c.818A=	NP_001188306.1:p.Asn273=
NM_001201377.2:c.818A=	NP_001188306.1:p.Asn273=
NM_001202404.1:c.983A=	NP_001189333.1:p.Asn328=
NM_001202404.2:c.902A=	NP_001189333.2:p.Asn301=
ENST00000409134.7:c.902A=	ENSP00000387123.3:p.Asn301=
ENST00000447989.6:c.983A=	ENSP00000414132.2:p.Asn328=
ENST00000458249.6:c.*811A=	ENSP00000403929.1:n.*811A=
ENST00000497231.6:n.1112A=
ENST00000497231.7:n.1329A=
ENST00000503281.5:c.491A=
ENST00000503281.6:c.491A=
ENST00000509459.5:c.450A=
ENST00000509459.6:c.450A=
ENST00000553117.5:c.902A=	ENSP00000448593.1:p.Asn301=
ENST00000635851.1:c.900A=
ENST00000636062.1:n.797A=
ENST00000636225.1:c.*846A=	ENSP00000490797.1:n.*846A=
ENST00000636286.1:n.620A=
ENST00000636482.1:n.389A=
ENST00000636743.1:c.782A=	ENSP00000489725.1:p.Asn261=
ENST00000636808.1:c.*711A=	ENSP00000490833.1:n.*711A=
ENST00000636872.1:c.1062A=	ENSP00000490919.1:n.1062A=
ENST00000636879.1:c.947A=	ENSP00000490811.1:p.Asn316=
ENST00000636886.1:c.701A=	ENSP00000490371.1:p.Asn234=
ENST00000637206.1:c.902A=	ENSP00000489895.1:p.Asn301=
ENST00000637272.1:c.902A=	ENSP00000489686.1:p.Asn301=
ENST00000637292.1:c.457A=
ENST00000637782.1:c.902A=	ENSP00000490024.1:p.Asn301=
ENST00000637964.1:c.848A=	ENSP00000490291.1:p.Asn283=
ENST00000638008.1:c.*746A=	ENSP00000490400.1:n.*746A=
XM_011543417.1:c.497A=	XP_011541719.1:p.Asn166=
XM_011543417.2:c.497A=	XP_011541719.1:p.Asn166=