Canonical Allele Identifier: CA360726640

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559263T>A , CM000667.2:g.126559263T>A	GRCh38
NC_000005.9:g.125894955T>A , CM000667.1:g.125894955T>A	GRCh37
NC_000005.8:g.125922854T>A	NCBI36
NG_008600.2:g.41128A>T
NG_008600.3:g.41128A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.985A>T MANE Select	NP_001173.2:p.Arg329Trp
ENST00000409134.8:c.985A>T MANE Select	ENSP00000387123.3:p.Arg329Trp
NM_001182.4:c.985A>T	NP_001173.2:p.Arg329Trp
NM_001201377.1:c.901A>T	NP_001188306.1:p.Arg301Trp
NM_001201377.2:c.901A>T	NP_001188306.1:p.Arg301Trp
NM_001202404.1:c.1066A>T	NP_001189333.1:p.Arg356Trp
NM_001202404.2:c.985A>T	NP_001189333.2:p.Arg329Trp
ENST00000409134.7:c.985A>T	ENSP00000387123.3:p.Arg329Trp
ENST00000447989.6:c.1066A>T	ENSP00000414132.2:p.Arg356Trp
ENST00000458249.6:c.*894A>T	ENSP00000403929.1:n.*894A>T
ENST00000497231.6:n.1195A>T
ENST00000497231.7:n.1412A>T
ENST00000503281.5:c.574A>T
ENST00000503281.6:c.574A>T
ENST00000509459.5:c.494A>T
ENST00000509459.6:c.494A>T
ENST00000553117.5:c.985A>T	ENSP00000448593.1:p.Arg329Trp
ENST00000635851.1:c.983A>T
ENST00000636062.1:n.880A>T
ENST00000636225.1:c.*929A>T	ENSP00000490797.1:n.*929A>T
ENST00000636286.1:n.703A>T
ENST00000636482.1:n.472A>T
ENST00000636743.1:c.865A>T	ENSP00000489725.1:p.Arg289Trp
ENST00000636808.1:c.*794A>T	ENSP00000490833.1:n.*794A>T
ENST00000636872.1:c.1145A>T	ENSP00000490919.1:n.1145A>T
ENST00000636879.1:c.1030A>T	ENSP00000490811.1:p.Arg344Trp
ENST00000636886.1:c.784A>T	ENSP00000490371.1:p.Arg262Trp
ENST00000637206.1:c.913+1820A>T	ENSP00000489895.1:n.913+1820A>T
ENST00000637272.1:c.976A>T	ENSP00000489686.1:p.Arg326Trp
ENST00000637292.1:c.558A>T
ENST00000637782.1:c.985A>T	ENSP00000490024.1:p.Arg329Trp
ENST00000637964.1:c.931A>T	ENSP00000490291.1:p.Arg311Trp
ENST00000638008.1:c.*829A>T	ENSP00000490400.1:n.*829A>T
XM_011543417.1:c.580A>T	XP_011541719.1:p.Arg194Trp
XM_011543417.2:c.580A>T	XP_011541719.1:p.Arg194Trp