Canonical Allele Identifier: CA360726679

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559274G>C , CM000667.2:g.126559274G>C	GRCh38
NC_000005.9:g.125894966G>C , CM000667.1:g.125894966G>C	GRCh37
NC_000005.8:g.125922865G>C	NCBI36
NG_008600.2:g.41117C>G
NG_008600.3:g.41117C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.974C>G MANE Select	NP_001173.2:p.Thr325Arg
ENST00000409134.8:c.974C>G MANE Select	ENSP00000387123.3:p.Thr325Arg
NM_001182.4:c.974C>G	NP_001173.2:p.Thr325Arg
NM_001201377.1:c.890C>G	NP_001188306.1:p.Thr297Arg
NM_001201377.2:c.890C>G	NP_001188306.1:p.Thr297Arg
NM_001202404.1:c.1055C>G	NP_001189333.1:p.Thr352Arg
NM_001202404.2:c.974C>G	NP_001189333.2:p.Thr325Arg
ENST00000409134.7:c.974C>G	ENSP00000387123.3:p.Thr325Arg
ENST00000447989.6:c.1055C>G	ENSP00000414132.2:p.Thr352Arg
ENST00000458249.6:c.*883C>G	ENSP00000403929.1:n.*883C>G
ENST00000497231.6:n.1184C>G
ENST00000497231.7:n.1401C>G
ENST00000503281.5:c.563C>G
ENST00000503281.6:c.563C>G
ENST00000509459.5:c.483C>G
ENST00000509459.6:c.483C>G
ENST00000553117.5:c.974C>G	ENSP00000448593.1:p.Thr325Arg
ENST00000635851.1:c.972C>G
ENST00000636062.1:n.869C>G
ENST00000636225.1:c.*918C>G	ENSP00000490797.1:n.*918C>G
ENST00000636286.1:n.692C>G
ENST00000636482.1:n.461C>G
ENST00000636743.1:c.854C>G	ENSP00000489725.1:p.Thr285Arg
ENST00000636808.1:c.*783C>G	ENSP00000490833.1:n.*783C>G
ENST00000636872.1:c.1134C>G	ENSP00000490919.1:n.1134C>G
ENST00000636879.1:c.1019C>G	ENSP00000490811.1:p.Thr340Arg
ENST00000636886.1:c.773C>G	ENSP00000490371.1:p.Thr258Arg
ENST00000637206.1:c.913+1809C>G	ENSP00000489895.1:n.913+1809C>G
ENST00000637272.1:c.965C>G	ENSP00000489686.1:p.Thr322Arg
ENST00000637292.1:c.547C>G
ENST00000637782.1:c.974C>G	ENSP00000490024.1:p.Thr325Arg
ENST00000637964.1:c.920C>G	ENSP00000490291.1:p.Thr307Arg
ENST00000638008.1:c.*818C>G	ENSP00000490400.1:n.*818C>G
XM_011543417.1:c.569C>G	XP_011541719.1:p.Thr190Arg
XM_011543417.2:c.569C>G	XP_011541719.1:p.Thr190Arg