Canonical Allele Identifier: CA360726662
Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449297
dbSNP Id: rs1554099008

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126559269C>T , CM000667.2:g.126559269C>T GRCh38
NC_000005.9:g.125894961C>T , CM000667.1:g.125894961C>T GRCh37
NC_000005.8:g.125922860C>T NCBI36
NG_008600.2:g.41122G>A
NG_008600.3:g.41122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.979G>A MANE Select ENSP00000387123.3:p.Gly327Ser
ENST00000458249.6:c.*888G>A ENSP00000403929.1:n.*888G>A
ENST00000497231.7:n.1406G>A
ENST00000503281.6:c.568G>A
ENST00000509459.6:c.488G>A
ENST00000635851.1:c.977G>A
ENST00000636062.1:n.874G>A
ENST00000636225.1:c.*923G>A ENSP00000490797.1:n.*923G>A
ENST00000636286.1:n.697G>A
ENST00000636482.1:n.466G>A
ENST00000636743.1:c.859G>A ENSP00000489725.1:p.Gly287Ser
ENST00000636808.1:c.*788G>A ENSP00000490833.1:n.*788G>A
ENST00000636872.1:c.1139G>A ENSP00000490919.1:n.1139G>A
ENST00000636879.1:c.1024G>A ENSP00000490811.1:p.Gly342Ser
ENST00000636886.1:c.778G>A ENSP00000490371.1:p.Gly260Ser
ENST00000637206.1:c.913+1814G>A ENSP00000489895.1:n.913+1814G>A
ENST00000637272.1:c.970G>A ENSP00000489686.1:p.Gly324Ser
ENST00000637292.1:c.552G>A
ENST00000637782.1:c.979G>A ENSP00000490024.1:p.Gly327Ser
ENST00000637964.1:c.925G>A ENSP00000490291.1:p.Gly309Ser
ENST00000638008.1:c.*823G>A ENSP00000490400.1:n.*823G>A
ENST00000409134.7:c.979G>A ENSP00000387123.3:p.Gly327Ser
ENST00000447989.6:c.1060G>A ENSP00000414132.2:p.Gly354Ser
ENST00000497231.6:n.1189G>A
ENST00000503281.5:c.568G>A
ENST00000509459.5:c.488G>A
ENST00000553117.5:c.979G>A ENSP00000448593.1:p.Gly327Ser
NM_001182.4:c.979G>A NP_001173.2:p.Gly327Ser
NM_001201377.1:c.895G>A NP_001188306.1:p.Gly299Ser
NM_001202404.1:c.1060G>A NP_001189333.1:p.Gly354Ser
XM_011543417.1:c.574G>A XP_011541719.1:p.Gly192Ser
XM_011543417.2:c.574G>A XP_011541719.1:p.Gly192Ser
NM_001182.5:c.979G>A MANE Select NP_001173.2:p.Gly327Ser
NM_001201377.2:c.895G>A NP_001188306.1:p.Gly299Ser
NM_001202404.2:c.979G>A NP_001189333.2:p.Gly327Ser