Canonical Allele Identifier: CA1580440970
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126546323C= , CM000667.2:g.126546323C= GRCh38
NC_000005.9:g.125882015C= , CM000667.1:g.125882015C= GRCh37
NC_000005.8:g.125909914C= NCBI36
NG_008600.2:g.54068G=
NG_008600.3:g.54068G=

Transcript Alleles

HGVS Amino-acid change
ENST00000409134.8:c.1565+1G= MANE Select ENSP00000387123.3:n.1565+1G=
ENST00000458249.6:c.*1474+1G= ENSP00000403929.1:n.*1474+1G=
ENST00000485852.7:n.312+1G=
ENST00000497231.7:n.1992+1G=
ENST00000635851.1:c.1563+1G=
ENST00000636286.1:n.1330+1G=
ENST00000636482.1:n.1099+1G=
ENST00000636743.1:c.1445+1G= ENSP00000489725.1:n.1445+1G=
ENST00000636808.1:c.*1374+1G= ENSP00000490833.1:n.*1374+1G=
ENST00000636872.1:c.1725+1G= ENSP00000490919.1:n.1725+1G=
ENST00000636879.1:c.1610+1G= ENSP00000490811.1:n.1610+1G=
ENST00000636886.1:c.1364+1G= ENSP00000490371.1:n.1364+1G=
ENST00000637206.1:c.1385+1G= ENSP00000489895.1:n.1385+1G=
ENST00000637272.1:c.1556+1G= ENSP00000489686.1:n.1556+1G=
ENST00000637292.1:c.1021+1G=
ENST00000637782.1:c.1565+1G= ENSP00000490024.1:n.1565+1G=
ENST00000638008.1:c.*1409+1G= ENSP00000490400.1:n.*1409+1G=
ENST00000638010.1:n.1511+1G=
ENST00000409134.7:c.1565+1G= ENSP00000387123.3:n.1565+1G=
ENST00000447989.6:c.1454+1G= ENSP00000414132.2:n.1454+1G=
ENST00000485852.6:n.312+1G=
ENST00000497231.6:n.1775+1G=
ENST00000553117.5:c.1373+1G= ENSP00000448593.1:n.1373+1G=
NM_001182.4:c.1565+1G= NP_001173.2:n.1565+1G=
NM_001201377.1:c.1481+1G= NP_001188306.1:n.1481+1G=
NM_001202404.1:c.1454+1G= NP_001189333.1:n.1454+1G=
XM_011543417.1:c.1160+1G= XP_011541719.1:n.1160+1G=
XM_011543417.2:c.1160+1G= XP_011541719.1:n.1160+1G=
NM_001182.5:c.1565+1G= MANE Select NP_001173.2:n.1565+1G=
NM_001201377.2:c.1481+1G= NP_001188306.1:n.1481+1G=
NM_001202404.2:c.1373+1G= NP_001189333.2:n.1373+1G=