Canonical Allele Identifier: CA1580441044
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126546497C= , CM000667.2:g.126546497C= GRCh38
NC_000005.9:g.125882189C= , CM000667.1:g.125882189C= GRCh37
NC_000005.8:g.125910088C= NCBI36
NG_008600.2:g.53894G=
NG_008600.3:g.53894G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1490-98G= MANE Select ENSP00000387123.3:n.1490-98G=
ENST00000458249.6:c.*1399-98G= ENSP00000403929.1:n.*1399-98G=
ENST00000485852.7:n.237-98G=
ENST00000497231.7:n.1917-98G=
ENST00000635851.1:c.1488-98G=
ENST00000636225.1:c.*1434-98G= ENSP00000490797.1:n.*1434-98G=
ENST00000636286.1:n.1255-98G=
ENST00000636482.1:n.1024-98G=
ENST00000636743.1:c.1370-98G= ENSP00000489725.1:n.1370-98G=
ENST00000636808.1:c.*1299-98G= ENSP00000490833.1:n.*1299-98G=
ENST00000636872.1:c.1650-98G= ENSP00000490919.1:n.1650-98G=
ENST00000636879.1:c.1535-98G= ENSP00000490811.1:n.1535-98G=
ENST00000636886.1:c.1289-98G= ENSP00000490371.1:n.1289-98G=
ENST00000637206.1:c.1310-98G= ENSP00000489895.1:n.1310-98G=
ENST00000637272.1:c.1481-98G= ENSP00000489686.1:n.1481-98G=
ENST00000637292.1:c.946-98G=
ENST00000637782.1:c.1490-98G= ENSP00000490024.1:n.1490-98G=
ENST00000638008.1:c.*1334-98G= ENSP00000490400.1:n.*1334-98G=
ENST00000638010.1:n.1436-98G=
ENST00000409134.7:c.1490-98G= ENSP00000387123.3:n.1490-98G=
ENST00000447989.6:c.1379-98G= ENSP00000414132.2:n.1379-98G=
ENST00000485852.6:n.237-98G=
ENST00000497231.6:n.1700-98G=
ENST00000553117.5:c.1298-98G= ENSP00000448593.1:n.1298-98G=
NM_001182.4:c.1490-98G= NP_001173.2:n.1490-98G=
NM_001201377.1:c.1406-98G= NP_001188306.1:n.1406-98G=
NM_001202404.1:c.1379-98G= NP_001189333.1:n.1379-98G=
XM_011543417.1:c.1085-98G= XP_011541719.1:n.1085-98G=
XM_011543417.2:c.1085-98G= XP_011541719.1:n.1085-98G=
NM_001182.5:c.1490-98G= MANE Select NP_001173.2:n.1490-98G=
NM_001201377.2:c.1406-98G= NP_001188306.1:n.1406-98G=
NM_001202404.2:c.1298-98G= NP_001189333.2:n.1298-98G=