Canonical Allele Identifier: CA1580440285
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126544716C= , CM000667.2:g.126544716C= GRCh38
NC_000005.9:g.125880408C= , CM000667.1:g.125880408C= GRCh37
NC_000005.8:g.125908307C= NCBI36
NG_008600.2:g.55675G=
NG_008600.3:g.55675G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.*249G= MANE Select ENSP00000387123.3:n.*249G=
ENST00000635851.1:c.1563+1608G=
ENST00000636743.1:c.*249G= ENSP00000489725.1:n.*249G=
ENST00000636808.1:c.*1678G= ENSP00000490833.1:n.*1678G=
ENST00000636872.1:c.2029G= ENSP00000490919.1:n.2029G=
ENST00000636879.1:c.*249G= ENSP00000490811.1:n.*249G=
ENST00000636886.1:c.*249G= ENSP00000490371.1:n.*249G=
ENST00000637206.1:c.*249G= ENSP00000489895.1:n.*249G=
ENST00000637272.1:c.*249G= ENSP00000489686.1:n.*249G=
ENST00000637782.1:c.1565+1608G= ENSP00000490024.1:n.1565+1608G=
ENST00000409134.7:c.*249G= ENSP00000387123.3:n.*249G=
ENST00000447989.6:c.*249G= ENSP00000414132.2:n.*249G=
ENST00000553117.5:c.*249G= ENSP00000448593.1:n.*249G=
NM_001182.4:c.*249G= NP_001173.2:n.*249G=
NM_001201377.1:c.*249G= NP_001188306.1:n.*249G=
NM_001202404.1:c.*249G= NP_001189333.1:n.*249G=
XM_011543417.2:c.*249G= XP_011541719.1:n.*249G=
NM_001182.5:c.*249G= MANE Select NP_001173.2:n.*249G=
NM_001201377.2:c.*249G= NP_001188306.1:n.*249G=
NM_001202404.2:c.*249G= NP_001189333.2:n.*249G=