Canonical Allele Identifier: CA1580440386

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544944G= , CM000667.2:g.126544944G=	GRCh38
NC_000005.9:g.125880636G= , CM000667.1:g.125880636G=	GRCh37
NC_000005.8:g.125908535G=	NCBI36
NG_008600.2:g.55447C=
NG_008600.3:g.55447C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*21C= MANE Select	ENSP00000387123.3:n.*21C=
ENST00000458249.6:c.*1550C=	ENSP00000403929.1:n.*1550C=
ENST00000485852.7:n.388C=
ENST00000497231.7:n.2068C=
ENST00000635851.1:c.1563+1380C=
ENST00000636286.1:n.1406C=
ENST00000636482.1:n.1175C=
ENST00000636743.1:c.*21C=	ENSP00000489725.1:n.*21C=
ENST00000636808.1:c.*1450C=	ENSP00000490833.1:n.*1450C=
ENST00000636872.1:c.1801C=	ENSP00000490919.1:n.1801C=
ENST00000636879.1:c.*21C=	ENSP00000490811.1:n.*21C=
ENST00000636886.1:c.*21C=	ENSP00000490371.1:n.*21C=
ENST00000637206.1:c.*21C=	ENSP00000489895.1:n.*21C=
ENST00000637272.1:c.*21C=	ENSP00000489686.1:n.*21C=
ENST00000637292.1:c.1097C=
ENST00000637782.1:c.1565+1380C=	ENSP00000490024.1:n.1565+1380C=
ENST00000638008.1:c.*1485C=	ENSP00000490400.1:n.*1485C=
ENST00000638010.1:n.1587C=
ENST00000409134.7:c.*21C=	ENSP00000387123.3:n.*21C=
ENST00000447989.6:c.*21C=	ENSP00000414132.2:n.*21C=
ENST00000485852.6:n.388C=
ENST00000497231.6:n.1851C=
ENST00000553117.5:c.*21C=	ENSP00000448593.1:n.*21C=
NM_001182.4:c.*21C=	NP_001173.2:n.*21C=
NM_001201377.1:c.*21C=	NP_001188306.1:n.*21C=
NM_001202404.1:c.*21C=	NP_001189333.1:n.*21C=
XM_011543417.1:c.*21C=	XP_011541719.1:n.*21C=
XM_011543417.2:c.*21C=	XP_011541719.1:n.*21C=
NM_001182.5:c.*21C= MANE Select	NP_001173.2:n.*21C=
NM_001201377.2:c.*21C=	NP_001188306.1:n.*21C=
NM_001202404.2:c.*21C=	NP_001189333.2:n.*21C=