Canonical Allele Identifier: CA360733101
Gene: ALDH7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126592679C>A , CM000667.2:g.126592679C>A GRCh38
NC_000005.9:g.125928371C>A , CM000667.1:g.125928371C>A GRCh37
NC_000005.8:g.125956270C>A NCBI36
NG_008600.2:g.7712G>T
NG_008600.3:g.7712G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.297G>T MANE Select ENSP00000387123.3:p.Trp99Cys
ENST00000412186.2:c.297G>T ENSP00000414536.2:p.Trp99Cys
ENST00000413020.6:c.297G>T ENSP00000487936.1:p.Trp99Cys
ENST00000458249.6:c.*206G>T ENSP00000403929.1:n.*206G>T
ENST00000479989.6:n.480G>T
ENST00000503281.6:c.106+2328G>T
ENST00000509270.2:c.246+672G>T ENSP00000449318.2:n.246+672G>T
ENST00000509459.6:c.65+2328G>T
ENST00000511266.6:n.1019G>T
ENST00000635851.1:c.295G>T
ENST00000635858.1:n.136G>T
ENST00000635933.1:n.326G>T
ENST00000636062.1:n.192G>T
ENST00000636190.1:n.176G>T
ENST00000636225.1:c.*106G>T ENSP00000490797.1:n.*106G>T
ENST00000636743.1:c.192+2328G>T ENSP00000489725.1:n.192+2328G>T
ENST00000636808.1:c.*106G>T ENSP00000490833.1:n.*106G>T
ENST00000636872.1:c.457G>T ENSP00000490919.1:n.457G>T
ENST00000636879.1:c.297G>T ENSP00000490811.1:p.Trp99Cys
ENST00000636886.1:c.192+2328G>T ENSP00000490371.1:n.192+2328G>T
ENST00000637206.1:c.297G>T ENSP00000489895.1:p.Trp99Cys
ENST00000637272.1:c.297G>T ENSP00000489686.1:p.Trp99Cys
ENST00000637782.1:c.297G>T ENSP00000490024.1:p.Trp99Cys
ENST00000637964.1:c.243G>T ENSP00000490291.1:p.Trp81Cys
ENST00000638008.1:c.*106G>T ENSP00000490400.1:n.*106G>T
ENST00000409134.7:c.297G>T ENSP00000387123.3:p.Trp99Cys
ENST00000412186.1:c.*106G>T ENSP00000414536.1:n.*106G>T
ENST00000413020.5:c.297G>T ENSP00000487936.1:p.Trp99Cys
ENST00000447989.6:c.378G>T ENSP00000414132.2:p.Trp126Cys
ENST00000458249.5:c.457G>T ENSP00000403929.1:n.457G>T
ENST00000479989.5:n.480G>T
ENST00000503281.5:c.106+2328G>T
ENST00000509270.1:c.192+2328G>T ENSP00000449318.1:n.192+2328G>T
ENST00000509459.5:c.65+2328G>T
ENST00000510111.6:c.291G>T ENSP00000447388.1:p.Trp97Cys
ENST00000511266.5:n.252G>T
ENST00000553117.5:c.297G>T ENSP00000448593.1:p.Trp99Cys
NM_001182.4:c.297G>T NP_001173.2:p.Trp99Cys
NM_001201377.1:c.213G>T NP_001188306.1:p.Trp71Cys
NM_001202404.1:c.378G>T NP_001189333.1:p.Trp126Cys
XM_011543417.1:c.-109G>T XP_011541719.1:n.-109G>T
XM_011543417.2:c.-109G>T XP_011541719.1:n.-109G>T
NM_001182.5:c.297G>T MANE Select NP_001173.2:p.Trp99Cys
NM_001201377.2:c.213G>T NP_001188306.1:p.Trp71Cys
NM_001202404.2:c.297G>T NP_001189333.2:p.Trp99Cys