Canonical Allele Identifier: CA1580458654
Gene: ALDH7A1 HGNC NCBI

Linked Data

dbSNP Id: rs1751263109

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126583911T>C , CM000667.2:g.126583911T>C GRCh38
NC_000005.9:g.125919603T>C , CM000667.1:g.125919603T>C GRCh37
NC_000005.8:g.125947502T>C NCBI36
NG_008600.2:g.16480A>G
NG_008600.3:g.16480A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409134.8:c.393+21A>G MANE Select ENSP00000387123.3:n.393+21A>G
ENST00000412186.2:c.393+21A>G ENSP00000414536.2:n.393+21A>G
ENST00000413020.6:c.393+21A>G ENSP00000487936.1:n.393+21A>G
ENST00000458249.6:c.*302+21A>G ENSP00000403929.1:n.*302+21A>G
ENST00000479989.6:n.576+21A>G
ENST00000503281.6:c.107-6700A>G
ENST00000509270.2:c.327+21A>G ENSP00000449318.2:n.327+21A>G
ENST00000509459.6:c.66-6700A>G
ENST00000511266.6:n.1115+21A>G
ENST00000635851.1:c.391+21A>G
ENST00000636062.1:n.288+21A>G
ENST00000636190.1:n.272+21A>G
ENST00000636225.1:c.*202+21A>G ENSP00000490797.1:n.*202+21A>G
ENST00000636286.1:n.111+21A>G
ENST00000636743.1:c.273+21A>G ENSP00000489725.1:n.273+21A>G
ENST00000636808.1:c.*202+21A>G ENSP00000490833.1:n.*202+21A>G
ENST00000636872.1:c.553+21A>G ENSP00000490919.1:n.553+21A>G
ENST00000636879.1:c.393+21A>G ENSP00000490811.1:n.393+21A>G
ENST00000636886.1:c.193-937A>G ENSP00000490371.1:n.193-937A>G
ENST00000637070.1:n.7+21A>G
ENST00000637206.1:c.393+21A>G ENSP00000489895.1:n.393+21A>G
ENST00000637272.1:c.393+21A>G ENSP00000489686.1:n.393+21A>G
ENST00000637292.1:c.46+21A>G
ENST00000637782.1:c.393+21A>G ENSP00000490024.1:n.393+21A>G
ENST00000637964.1:c.339+21A>G ENSP00000490291.1:n.339+21A>G
ENST00000638008.1:c.*335+21A>G ENSP00000490400.1:n.*335+21A>G
ENST00000409134.7:c.393+21A>G ENSP00000387123.3:n.393+21A>G
ENST00000413020.5:c.393+21A>G ENSP00000487936.1:n.393+21A>G
ENST00000447989.6:c.474+21A>G ENSP00000414132.2:n.474+21A>G
ENST00000458249.5:c.553+21A>G ENSP00000403929.1:n.553+21A>G
ENST00000503281.5:c.107-6700A>G
ENST00000509270.1:c.273+21A>G ENSP00000449318.1:n.273+21A>G
ENST00000509459.5:c.66-6700A>G
ENST00000510111.6:c.307-937A>G ENSP00000447388.1:n.307-937A>G
ENST00000511266.5:n.348+21A>G
ENST00000553117.5:c.393+21A>G ENSP00000448593.1:n.393+21A>G
NM_001182.4:c.393+21A>G NP_001173.2:n.393+21A>G
NM_001201377.1:c.309+21A>G NP_001188306.1:n.309+21A>G
NM_001202404.1:c.474+21A>G NP_001189333.1:n.474+21A>G
XM_011543417.1:c.-13+21A>G XP_011541719.1:n.-13+21A>G
XM_011543417.2:c.-13+21A>G XP_011541719.1:n.-13+21A>G
NM_001182.5:c.393+21A>G MANE Select NP_001173.2:n.393+21A>G
NM_001201377.2:c.309+21A>G NP_001188306.1:n.309+21A>G
NM_001202404.2:c.393+21A>G NP_001189333.2:n.393+21A>G