Canonical Allele Identifier: CA1580444664

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554294C= , CM000667.2:g.126554294C=	GRCh38
NC_000005.9:g.125889986C= , CM000667.1:g.125889986C=	GRCh37
NC_000005.8:g.125917885C=	NCBI36
NG_008600.2:g.46097G=
NG_008600.3:g.46097G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1193G= MANE Select	NP_001173.2:p.Gly398=
ENST00000409134.8:c.1193G= MANE Select	ENSP00000387123.3:p.Gly398=
NM_001182.4:c.1193G=	NP_001173.2:p.Gly398=
NM_001201377.1:c.1109G=	NP_001188306.1:p.Gly370=
NM_001201377.2:c.1109G=	NP_001188306.1:p.Gly370=
NM_001202404.1:c.1090-2157G=	NP_001189333.1:n.1090-2157G=
NM_001202404.2:c.1009-2157G=	NP_001189333.2:n.1009-2157G=
ENST00000409134.7:c.1193G=	ENSP00000387123.3:p.Gly398=
ENST00000447989.6:c.1090-2157G=	ENSP00000414132.2:n.1090-2157G=
ENST00000458249.6:c.*1102G=	ENSP00000403929.1:n.*1102G=
ENST00000497231.6:n.1403G=
ENST00000497231.7:n.1620G=
ENST00000503281.5:c.782G=
ENST00000503281.6:c.782G=
ENST00000553117.5:c.1009-2157G=	ENSP00000448593.1:n.1009-2157G=
ENST00000635851.1:c.1191G=
ENST00000636062.1:n.1088G=
ENST00000636225.1:c.*1137G=	ENSP00000490797.1:n.*1137G=
ENST00000636286.1:n.911G=
ENST00000636482.1:n.680G=
ENST00000636743.1:c.1073G=	ENSP00000489725.1:p.Gly358=
ENST00000636808.1:c.*1002G=	ENSP00000490833.1:n.*1002G=
ENST00000636872.1:c.1353G=	ENSP00000490919.1:n.1353G=
ENST00000636879.1:c.1238G=	ENSP00000490811.1:p.Gly413=
ENST00000636886.1:c.992G=	ENSP00000490371.1:p.Gly331=
ENST00000637206.1:c.1013G=	ENSP00000489895.1:p.Gly338=
ENST00000637272.1:c.1184G=	ENSP00000489686.1:p.Gly395=
ENST00000637292.1:c.766G=
ENST00000637782.1:c.1193G=	ENSP00000490024.1:p.Gly398=
ENST00000638008.1:c.*1037G=	ENSP00000490400.1:n.*1037G=
ENST00000638010.1:n.1139G=
XM_011543417.1:c.788G=	XP_011541719.1:p.Gly263=
XM_011543417.2:c.788G=	XP_011541719.1:p.Gly263=