Canonical Allele Identifier: CA360726686

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559275T>C , CM000667.2:g.126559275T>C	GRCh38
NC_000005.9:g.125894967T>C , CM000667.1:g.125894967T>C	GRCh37
NC_000005.8:g.125922866T>C	NCBI36
NG_008600.2:g.41116A>G
NG_008600.3:g.41116A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.973A>G MANE Select	NP_001173.2:p.Thr325Ala
ENST00000409134.8:c.973A>G MANE Select	ENSP00000387123.3:p.Thr325Ala
NM_001182.4:c.973A>G	NP_001173.2:p.Thr325Ala
NM_001201377.1:c.889A>G	NP_001188306.1:p.Thr297Ala
NM_001201377.2:c.889A>G	NP_001188306.1:p.Thr297Ala
NM_001202404.1:c.1054A>G	NP_001189333.1:p.Thr352Ala
NM_001202404.2:c.973A>G	NP_001189333.2:p.Thr325Ala
ENST00000409134.7:c.973A>G	ENSP00000387123.3:p.Thr325Ala
ENST00000447989.6:c.1054A>G	ENSP00000414132.2:p.Thr352Ala
ENST00000458249.6:c.*882A>G	ENSP00000403929.1:n.*882A>G
ENST00000497231.6:n.1183A>G
ENST00000497231.7:n.1400A>G
ENST00000503281.5:c.562A>G
ENST00000503281.6:c.562A>G
ENST00000509459.5:c.482A>G
ENST00000509459.6:c.482A>G
ENST00000553117.5:c.973A>G	ENSP00000448593.1:p.Thr325Ala
ENST00000635851.1:c.971A>G
ENST00000636062.1:n.868A>G
ENST00000636225.1:c.*917A>G	ENSP00000490797.1:n.*917A>G
ENST00000636286.1:n.691A>G
ENST00000636482.1:n.460A>G
ENST00000636743.1:c.853A>G	ENSP00000489725.1:p.Thr285Ala
ENST00000636808.1:c.*782A>G	ENSP00000490833.1:n.*782A>G
ENST00000636872.1:c.1133A>G	ENSP00000490919.1:n.1133A>G
ENST00000636879.1:c.1018A>G	ENSP00000490811.1:p.Thr340Ala
ENST00000636886.1:c.772A>G	ENSP00000490371.1:p.Thr258Ala
ENST00000637206.1:c.913+1808A>G	ENSP00000489895.1:n.913+1808A>G
ENST00000637272.1:c.964A>G	ENSP00000489686.1:p.Thr322Ala
ENST00000637292.1:c.546A>G
ENST00000637782.1:c.973A>G	ENSP00000490024.1:p.Thr325Ala
ENST00000637964.1:c.919A>G	ENSP00000490291.1:p.Thr307Ala
ENST00000638008.1:c.*817A>G	ENSP00000490400.1:n.*817A>G
XM_011543417.1:c.568A>G	XP_011541719.1:p.Thr190Ala
XM_011543417.2:c.568A>G	XP_011541719.1:p.Thr190Ala