Canonical Allele Identifier: CA360733235

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126593358A>C , CM000667.2:g.126593358A>C	GRCh38
NC_000005.9:g.125929050A>C , CM000667.1:g.125929050A>C	GRCh37
NC_000005.8:g.125956949A>C	NCBI36
NG_008600.2:g.7033T>G
NG_008600.3:g.7033T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.239T>G MANE Select	NP_001173.2:p.Val80Gly
ENST00000409134.8:c.239T>G MANE Select	ENSP00000387123.3:p.Val80Gly
NM_001182.4:c.239T>G	NP_001173.2:p.Val80Gly
NM_001201377.1:c.155T>G	NP_001188306.1:p.Val52Gly
NM_001201377.2:c.155T>G	NP_001188306.1:p.Val52Gly
NM_001202404.1:c.320T>G	NP_001189333.1:p.Val107Gly
NM_001202404.2:c.239T>G	NP_001189333.2:p.Val80Gly
ENST00000409134.7:c.239T>G	ENSP00000387123.3:p.Val80Gly
ENST00000412186.1:c.*48T>G	ENSP00000414536.1:n.*48T>G
ENST00000412186.2:c.239T>G	ENSP00000414536.2:p.Val80Gly
ENST00000413020.5:c.239T>G	ENSP00000487936.1:p.Val80Gly
ENST00000413020.6:c.239T>G	ENSP00000487936.1:p.Val80Gly
ENST00000447989.6:c.320T>G	ENSP00000414132.2:p.Val107Gly
ENST00000458249.5:c.399T>G	ENSP00000403929.1:n.399T>G
ENST00000458249.6:c.*148T>G	ENSP00000403929.1:n.*148T>G
ENST00000479989.5:n.422T>G
ENST00000479989.6:n.422T>G
ENST00000503281.5:c.106+1649T>G
ENST00000503281.6:c.106+1649T>G
ENST00000509270.1:c.192+1649T>G	ENSP00000449318.1:n.192+1649T>G
ENST00000509270.2:c.239T>G	ENSP00000449318.2:p.Val80Gly
ENST00000509459.5:c.65+1649T>G
ENST00000509459.6:c.65+1649T>G
ENST00000510111.6:c.233T>G	ENSP00000447388.1:p.Val78Gly
ENST00000511266.5:n.194T>G
ENST00000511266.6:n.961T>G
ENST00000553117.5:c.239T>G	ENSP00000448593.1:p.Val80Gly
ENST00000635851.1:c.237T>G
ENST00000635858.1:n.78T>G
ENST00000635933.1:n.268T>G
ENST00000636062.1:n.134T>G
ENST00000636190.1:n.118T>G
ENST00000636225.1:c.*48T>G	ENSP00000490797.1:n.*48T>G
ENST00000636743.1:c.192+1649T>G	ENSP00000489725.1:n.192+1649T>G
ENST00000636808.1:c.*48T>G	ENSP00000490833.1:n.*48T>G
ENST00000636872.1:c.399T>G	ENSP00000490919.1:n.399T>G
ENST00000636879.1:c.239T>G	ENSP00000490811.1:p.Val80Gly
ENST00000636886.1:c.192+1649T>G	ENSP00000490371.1:n.192+1649T>G
ENST00000637206.1:c.239T>G	ENSP00000489895.1:p.Val80Gly
ENST00000637272.1:c.239T>G	ENSP00000489686.1:p.Val80Gly
ENST00000637782.1:c.239T>G	ENSP00000490024.1:p.Val80Gly
ENST00000637964.1:c.193-629T>G	ENSP00000490291.1:n.193-629T>G
ENST00000638008.1:c.*48T>G	ENSP00000490400.1:n.*48T>G
XM_011543417.1:c.-167T>G	XP_011541719.1:n.-167T>G
XM_011543417.2:c.-167T>G	XP_011541719.1:n.-167T>G