Canonical Allele Identifier: CA360722581
Gene: ALDH7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126552022T>A , CM000667.2:g.126552022T>A GRCh38
NC_000005.9:g.125887714T>A , CM000667.1:g.125887714T>A GRCh37
NC_000005.8:g.125915613T>A NCBI36
NG_008600.2:g.48369A>T
NG_008600.3:g.48369A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1316A>T MANE Select ENSP00000387123.3:p.Lys439Met
ENST00000458249.6:c.*1225A>T ENSP00000403929.1:n.*1225A>T
ENST00000497231.7:n.1743A>T
ENST00000503281.6:c.905A>T
ENST00000635851.1:c.1314A>T
ENST00000636062.1:n.1211A>T
ENST00000636225.1:c.*1260A>T ENSP00000490797.1:n.*1260A>T
ENST00000636286.1:n.1034A>T
ENST00000636482.1:n.803A>T
ENST00000636743.1:c.1196A>T ENSP00000489725.1:p.Lys399Met
ENST00000636808.1:c.*1125A>T ENSP00000490833.1:n.*1125A>T
ENST00000636872.1:c.1476A>T ENSP00000490919.1:n.1476A>T
ENST00000636879.1:c.1361A>T ENSP00000490811.1:p.Lys454Met
ENST00000636886.1:c.1115A>T ENSP00000490371.1:p.Lys372Met
ENST00000637206.1:c.1136A>T ENSP00000489895.1:p.Lys379Met
ENST00000637272.1:c.1307A>T ENSP00000489686.1:p.Lys436Met
ENST00000637292.1:c.774-1729A>T
ENST00000637782.1:c.1316A>T ENSP00000490024.1:p.Lys439Met
ENST00000638008.1:c.*1160A>T ENSP00000490400.1:n.*1160A>T
ENST00000638010.1:n.1262A>T
ENST00000409134.7:c.1316A>T ENSP00000387123.3:p.Lys439Met
ENST00000447989.6:c.1205A>T ENSP00000414132.2:p.Lys402Met
ENST00000476328.1:n.81A>T
ENST00000497231.6:n.1526A>T
ENST00000503281.5:c.905A>T
ENST00000553117.5:c.1124A>T ENSP00000448593.1:p.Lys375Met
NM_001182.4:c.1316A>T NP_001173.2:p.Lys439Met
NM_001201377.1:c.1232A>T NP_001188306.1:p.Lys411Met
NM_001202404.1:c.1205A>T NP_001189333.1:p.Lys402Met
XM_011543417.1:c.911A>T XP_011541719.1:p.Lys304Met
XM_011543417.2:c.911A>T XP_011541719.1:p.Lys304Met
NM_001182.5:c.1316A>T MANE Select NP_001173.2:p.Lys439Met
NM_001201377.2:c.1232A>T NP_001188306.1:p.Lys411Met
NM_001202404.2:c.1124A>T NP_001189333.2:p.Lys375Met