Canonical Allele Identifier: CA1580455191

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577145T= , CM000667.2:g.126577145T=	GRCh38
NC_000005.9:g.125912837T= , CM000667.1:g.125912837T=	GRCh37
NC_000005.8:g.125940736T=	NCBI36
NG_008600.2:g.23246A=
NG_008600.3:g.23246A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.584A= MANE Select	NP_001173.2:p.Asn195=
ENST00000409134.8:c.584A= MANE Select	ENSP00000387123.3:p.Asn195=
NM_001182.4:c.584A=	NP_001173.2:p.Asn195=
NM_001201377.1:c.500A=	NP_001188306.1:p.Asn167=
NM_001201377.2:c.500A=	NP_001188306.1:p.Asn167=
NM_001202404.1:c.665A=	NP_001189333.1:p.Asn222=
NM_001202404.2:c.584A=	NP_001189333.2:p.Asn195=
ENST00000409134.7:c.584A=	ENSP00000387123.3:p.Asn195=
ENST00000412186.2:c.460A=	ENSP00000414536.2:n.460A=
ENST00000413020.5:c.584A=	ENSP00000487936.1:p.Asn195=
ENST00000413020.6:c.584A=	ENSP00000487936.1:p.Asn195=
ENST00000433026.5:n.111A=
ENST00000447989.6:c.665A=	ENSP00000414132.2:p.Asn222=
ENST00000458249.5:c.744A=	ENSP00000403929.1:n.744A=
ENST00000458249.6:c.*493A=	ENSP00000403929.1:n.*493A=
ENST00000503281.5:c.173A=
ENST00000503281.6:c.173A=
ENST00000509270.2:c.518A=	ENSP00000449318.2:p.Asn173=
ENST00000509459.5:c.132A=
ENST00000509459.6:c.132A=
ENST00000510111.6:c.497A=	ENSP00000447388.1:p.Asn166=
ENST00000511266.5:n.415A=
ENST00000511266.6:n.1306A=
ENST00000553117.5:c.584A=	ENSP00000448593.1:p.Asn195=
ENST00000635851.1:c.582A=
ENST00000636062.1:n.479A=
ENST00000636225.1:c.*393A=	ENSP00000490797.1:n.*393A=
ENST00000636286.1:n.302A=
ENST00000636743.1:c.464A=	ENSP00000489725.1:p.Asn155=
ENST00000636808.1:c.*393A=	ENSP00000490833.1:n.*393A=
ENST00000636872.1:c.744A=	ENSP00000490919.1:n.744A=
ENST00000636879.1:c.629A=	ENSP00000490811.1:p.Asn210=
ENST00000636886.1:c.383A=	ENSP00000490371.1:p.Asn128=
ENST00000637206.1:c.584A=	ENSP00000489895.1:p.Asn195=
ENST00000637272.1:c.584A=	ENSP00000489686.1:p.Asn195=
ENST00000637292.1:c.237A=
ENST00000637782.1:c.584A=	ENSP00000490024.1:p.Asn195=
ENST00000637964.1:c.530A=	ENSP00000490291.1:p.Asn177=
ENST00000638008.1:c.*526A=	ENSP00000490400.1:n.*526A=
XM_011543417.1:c.179A=	XP_011541719.1:p.Asn60=
XM_011543417.2:c.179A=	XP_011541719.1:p.Asn60=