Canonical Allele Identifier: CA3389815
Gene: ALDH7A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265384
dbSNP Id: rs199497486

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126592663C>T , CM000667.2:g.126592663C>T GRCh38
NC_000005.9:g.125928355C>T , CM000667.1:g.125928355C>T GRCh37
NC_000005.8:g.125956254C>T NCBI36
NG_008600.2:g.7728G>A

Transcript Alleles

HGVS Amino-acid change
NM_001182.4:c.312+1G>A VV NP_001173.2:p.=
NM_001201377.1:c.228+1G>A VV NP_001188306.1:p.=
NM_001202404.1:c.393+1G>A VV NP_001189333.1:p.=
XM_011543417.1:c.-94+1G>A XP_011541719.1:p.=
XM_011543417.2:c.-94+1G>A
NM_001182.5:c.312+1G>A VV MANE Preferred
ENST00000409134.7:c.312+1G>A ENSP00000387123.3:p.=
ENST00000412186.1:c.*121+1G>A ENSP00000414536.1:p.=
ENST00000413020.5:c.312+1G>A ENSP00000487936.1:p.=
ENST00000447989.6:c.393+1G>A ENSP00000414132.2:p.=
ENST00000458249.5:n.472+1G>A ENSP00000403929.1:p.=
ENST00000479989.5:n.495+1G>A
ENST00000503281.5:n.106+2344G>A
ENST00000509270.1:c.192+2344G>A ENSP00000449318.1:p.=
ENST00000509459.5:n.65+2344G>A
ENST00000510111.6:n.306+1G>A ENSP00000447388.1:p.=
ENST00000511266.5:n.267+1G>A
ENST00000553117.5:c.312+1G>A ENSP00000448593.1:p.=