Canonical Allele Identifier: CA360720873
Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1328029
dbSNP Id: rs1749930972

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126549935C>T , CM000667.2:g.126549935C>T GRCh38
NC_000005.9:g.125885627C>T , CM000667.1:g.125885627C>T GRCh37
NC_000005.8:g.125913526C>T NCBI36
NG_008600.2:g.50456G>A
NG_008600.3:g.50456G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1483G>A MANE Select ENSP00000387123.3:p.Ala495Thr
ENST00000458249.6:c.*1392G>A ENSP00000403929.1:n.*1392G>A
ENST00000485852.7:n.230G>A
ENST00000497231.7:n.1910G>A
ENST00000635851.1:c.1481G>A
ENST00000636062.1:n.1378G>A
ENST00000636225.1:c.*1427G>A ENSP00000490797.1:n.*1427G>A
ENST00000636286.1:n.1248G>A
ENST00000636482.1:n.1017G>A
ENST00000636743.1:c.1363G>A ENSP00000489725.1:p.Ala455Thr
ENST00000636808.1:c.*1292G>A ENSP00000490833.1:n.*1292G>A
ENST00000636872.1:c.1643G>A ENSP00000490919.1:n.1643G>A
ENST00000636879.1:c.1528G>A ENSP00000490811.1:p.Ala510Thr
ENST00000636886.1:c.1282G>A ENSP00000490371.1:p.Ala428Thr
ENST00000637206.1:c.1303G>A ENSP00000489895.1:p.Ala435Thr
ENST00000637272.1:c.1474G>A ENSP00000489686.1:p.Ala492Thr
ENST00000637292.1:c.939G>A
ENST00000637782.1:c.1483G>A ENSP00000490024.1:p.Ala495Thr
ENST00000638008.1:c.*1327G>A ENSP00000490400.1:n.*1327G>A
ENST00000638010.1:n.1429G>A
ENST00000409134.7:c.1483G>A ENSP00000387123.3:p.Ala495Thr
ENST00000447989.6:c.1372G>A ENSP00000414132.2:p.Ala458Thr
ENST00000476328.1:n.441G>A
ENST00000485852.6:n.230G>A
ENST00000497231.6:n.1693G>A
ENST00000553117.5:c.1291G>A ENSP00000448593.1:p.Ala431Thr
NM_001182.4:c.1483G>A NP_001173.2:p.Ala495Thr
NM_001201377.1:c.1399G>A NP_001188306.1:p.Ala467Thr
NM_001202404.1:c.1372G>A NP_001189333.1:p.Ala458Thr
XM_011543417.1:c.1078G>A XP_011541719.1:p.Ala360Thr
XM_011543417.2:c.1078G>A XP_011541719.1:p.Ala360Thr
NM_001182.5:c.1483G>A MANE Select NP_001173.2:p.Ala495Thr
NM_001201377.2:c.1399G>A NP_001188306.1:p.Ala467Thr
NM_001202404.2:c.1291G>A NP_001189333.2:p.Ala431Thr