Canonical Allele Identifier: CA360719329
Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1483613
ClinVar RCV Id: RCV001998861
dbSNP Id: rs2112746227

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126546372C>T , CM000667.2:g.126546372C>T GRCh38
NC_000005.9:g.125882064C>T , CM000667.1:g.125882064C>T GRCh37
NC_000005.8:g.125909963C>T NCBI36
NG_008600.2:g.54019G>A
NG_008600.3:g.54019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1517G>A MANE Select ENSP00000387123.3:p.Arg506Lys
ENST00000458249.6:c.*1426G>A ENSP00000403929.1:n.*1426G>A
ENST00000485852.7:n.264G>A
ENST00000497231.7:n.1944G>A
ENST00000635851.1:c.1515G>A
ENST00000636225.1:c.*1461G>A ENSP00000490797.1:n.*1461G>A
ENST00000636286.1:n.1282G>A
ENST00000636482.1:n.1051G>A
ENST00000636743.1:c.1397G>A ENSP00000489725.1:p.Arg466Lys
ENST00000636808.1:c.*1326G>A ENSP00000490833.1:n.*1326G>A
ENST00000636872.1:c.1677G>A ENSP00000490919.1:n.1677G>A
ENST00000636879.1:c.1562G>A ENSP00000490811.1:p.Arg521Lys
ENST00000636886.1:c.1316G>A ENSP00000490371.1:p.Arg439Lys
ENST00000637206.1:c.1337G>A ENSP00000489895.1:p.Arg446Lys
ENST00000637272.1:c.1508G>A ENSP00000489686.1:p.Arg503Lys
ENST00000637292.1:c.973G>A
ENST00000637782.1:c.1517G>A ENSP00000490024.1:p.Arg506Lys
ENST00000638008.1:c.*1361G>A ENSP00000490400.1:n.*1361G>A
ENST00000638010.1:n.1463G>A
ENST00000409134.7:c.1517G>A ENSP00000387123.3:p.Arg506Lys
ENST00000447989.6:c.1406G>A ENSP00000414132.2:p.Arg469Lys
ENST00000485852.6:n.264G>A
ENST00000497231.6:n.1727G>A
ENST00000553117.5:c.1325G>A ENSP00000448593.1:p.Arg442Lys
NM_001182.4:c.1517G>A NP_001173.2:p.Arg506Lys
NM_001201377.1:c.1433G>A NP_001188306.1:p.Arg478Lys
NM_001202404.1:c.1406G>A NP_001189333.1:p.Arg469Lys
XM_011543417.1:c.1112G>A XP_011541719.1:p.Arg371Lys
XM_011543417.2:c.1112G>A XP_011541719.1:p.Arg371Lys
NM_001182.5:c.1517G>A MANE Select NP_001173.2:p.Arg506Lys
NM_001201377.2:c.1433G>A NP_001188306.1:p.Arg478Lys
NM_001202404.2:c.1325G>A NP_001189333.2:p.Arg442Lys