Canonical Allele Identifier: CA360731066

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577120C>T , CM000667.2:g.126577120C>T	GRCh38
NC_000005.9:g.125912812C>T , CM000667.1:g.125912812C>T	GRCh37
NC_000005.8:g.125940711C>T	NCBI36
NG_008600.2:g.23271G>A
NG_008600.3:g.23271G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.609G>A MANE Select	NP_001173.2:p.Trp203Ter
ENST00000409134.8:c.609G>A MANE Select	ENSP00000387123.3:p.Trp203Ter
NM_001182.4:c.609G>A	NP_001173.2:p.Trp203Ter
NM_001201377.1:c.525G>A	NP_001188306.1:p.Trp175Ter
NM_001201377.2:c.525G>A	NP_001188306.1:p.Trp175Ter
NM_001202404.1:c.690G>A	NP_001189333.1:p.Trp230Ter
NM_001202404.2:c.609G>A	NP_001189333.2:p.Trp203Ter
ENST00000409134.7:c.609G>A	ENSP00000387123.3:p.Trp203Ter
ENST00000412186.2:c.485G>A	ENSP00000414536.2:n.485G>A
ENST00000413020.5:c.609G>A	ENSP00000487936.1:p.Trp203Ter
ENST00000413020.6:c.609G>A	ENSP00000487936.1:p.Trp203Ter
ENST00000433026.5:n.136G>A
ENST00000447989.6:c.690G>A	ENSP00000414132.2:p.Trp230Ter
ENST00000458249.5:c.769G>A	ENSP00000403929.1:n.769G>A
ENST00000458249.6:c.*518G>A	ENSP00000403929.1:n.*518G>A
ENST00000503281.5:c.198G>A
ENST00000503281.6:c.198G>A
ENST00000509270.2:c.543G>A	ENSP00000449318.2:p.Trp181Ter
ENST00000509459.5:c.157G>A
ENST00000509459.6:c.157G>A
ENST00000510111.6:c.522G>A	ENSP00000447388.1:p.Trp174Ter
ENST00000511266.5:n.440G>A
ENST00000511266.6:n.1331G>A
ENST00000553117.5:c.609G>A	ENSP00000448593.1:p.Trp203Ter
ENST00000635851.1:c.607G>A
ENST00000636062.1:n.504G>A
ENST00000636225.1:c.*418G>A	ENSP00000490797.1:n.*418G>A
ENST00000636286.1:n.327G>A
ENST00000636743.1:c.489G>A	ENSP00000489725.1:p.Trp163Ter
ENST00000636808.1:c.*418G>A	ENSP00000490833.1:n.*418G>A
ENST00000636872.1:c.769G>A	ENSP00000490919.1:n.769G>A
ENST00000636879.1:c.654G>A	ENSP00000490811.1:p.Trp218Ter
ENST00000636886.1:c.408G>A	ENSP00000490371.1:p.Trp136Ter
ENST00000637206.1:c.609G>A	ENSP00000489895.1:p.Trp203Ter
ENST00000637272.1:c.609G>A	ENSP00000489686.1:p.Trp203Ter
ENST00000637292.1:c.262G>A
ENST00000637782.1:c.609G>A	ENSP00000490024.1:p.Trp203Ter
ENST00000637964.1:c.555G>A	ENSP00000490291.1:p.Trp185Ter
ENST00000638008.1:c.*551G>A	ENSP00000490400.1:n.*551G>A
XM_011543417.1:c.204G>A	XP_011541719.1:p.Trp68Ter
XM_011543417.2:c.204G>A	XP_011541719.1:p.Trp68Ter