Canonical Allele Identifier: CA360722988
Gene: ALDH7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126552057C>G , CM000667.2:g.126552057C>G GRCh38
NC_000005.9:g.125887749C>G , CM000667.1:g.125887749C>G GRCh37
NC_000005.8:g.125915648C>G NCBI36
NG_008600.2:g.48334G>C
NG_008600.3:g.48334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1281G>C MANE Select ENSP00000387123.3:p.Glu427Asp
ENST00000458249.6:c.*1190G>C ENSP00000403929.1:n.*1190G>C
ENST00000497231.7:n.1708G>C
ENST00000503281.6:c.870G>C
ENST00000635851.1:c.1279G>C
ENST00000636062.1:n.1176G>C
ENST00000636225.1:c.*1225G>C ENSP00000490797.1:n.*1225G>C
ENST00000636286.1:n.999G>C
ENST00000636482.1:n.768G>C
ENST00000636743.1:c.1161G>C ENSP00000489725.1:p.Glu387Asp
ENST00000636808.1:c.*1090G>C ENSP00000490833.1:n.*1090G>C
ENST00000636872.1:c.1441G>C ENSP00000490919.1:n.1441G>C
ENST00000636879.1:c.1326G>C ENSP00000490811.1:p.Glu442Asp
ENST00000636886.1:c.1080G>C ENSP00000490371.1:p.Glu360Asp
ENST00000637206.1:c.1101G>C ENSP00000489895.1:p.Glu367Asp
ENST00000637272.1:c.1272G>C ENSP00000489686.1:p.Glu424Asp
ENST00000637292.1:c.774-1764G>C
ENST00000637782.1:c.1281G>C ENSP00000490024.1:p.Glu427Asp
ENST00000638008.1:c.*1125G>C ENSP00000490400.1:n.*1125G>C
ENST00000638010.1:n.1227G>C
ENST00000409134.7:c.1281G>C ENSP00000387123.3:p.Glu427Asp
ENST00000447989.6:c.1170G>C ENSP00000414132.2:p.Glu390Asp
ENST00000476328.1:n.46G>C
ENST00000497231.6:n.1491G>C
ENST00000503281.5:c.870G>C
ENST00000553117.5:c.1089G>C ENSP00000448593.1:p.Glu363Asp
NM_001182.4:c.1281G>C NP_001173.2:p.Glu427Asp
NM_001201377.1:c.1197G>C NP_001188306.1:p.Glu399Asp
NM_001202404.1:c.1170G>C NP_001189333.1:p.Glu390Asp
XM_011543417.1:c.876G>C XP_011541719.1:p.Glu292Asp
XM_011543417.2:c.876G>C XP_011541719.1:p.Glu292Asp
NM_001182.5:c.1281G>C MANE Select NP_001173.2:p.Glu427Asp
NM_001201377.2:c.1197G>C NP_001188306.1:p.Glu399Asp
NM_001202404.2:c.1089G>C NP_001189333.2:p.Glu363Asp