Canonical Allele Identifier: CA1580440270
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126544678A= , CM000667.2:g.126544678A= GRCh38
NC_000005.9:g.125880370A= , CM000667.1:g.125880370A= GRCh37
NC_000005.8:g.125908269A= NCBI36
NG_008600.2:g.55713T=
NG_008600.3:g.55713T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.*287T= MANE Select ENSP00000387123.3:n.*287T=
ENST00000635851.1:c.1563+1646T=
ENST00000636743.1:c.*287T= ENSP00000489725.1:n.*287T=
ENST00000636808.1:c.*1716T= ENSP00000490833.1:n.*1716T=
ENST00000636872.1:c.2067T= ENSP00000490919.1:n.2067T=
ENST00000636879.1:c.*287T= ENSP00000490811.1:n.*287T=
ENST00000636886.1:c.*287T= ENSP00000490371.1:n.*287T=
ENST00000637206.1:c.*287T= ENSP00000489895.1:n.*287T=
ENST00000637272.1:c.*287T= ENSP00000489686.1:n.*287T=
ENST00000637782.1:c.1565+1646T= ENSP00000490024.1:n.1565+1646T=
ENST00000409134.7:c.*287T= ENSP00000387123.3:n.*287T=
ENST00000447989.6:c.*287T= ENSP00000414132.2:n.*287T=
ENST00000553117.5:c.*287T= ENSP00000448593.1:n.*287T=
NM_001182.4:c.*287T= NP_001173.2:n.*287T=
NM_001201377.1:c.*287T= NP_001188306.1:n.*287T=
NM_001202404.1:c.*287T= NP_001189333.1:n.*287T=
XM_011543417.2:c.*287T= XP_011541719.1:n.*287T=
NM_001182.5:c.*287T= MANE Select NP_001173.2:n.*287T=
NM_001201377.2:c.*287T= NP_001188306.1:n.*287T=
NM_001202404.2:c.*287T= NP_001189333.2:n.*287T=