Canonical Allele Identifier: CA126883154

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546353G>A , CM000667.2:g.126546353G>A	GRCh38
NC_000005.9:g.125882045G>A , CM000667.1:g.125882045G>A	GRCh37
NC_000005.8:g.125909944G>A	NCBI36
NG_008600.2:g.54038C>T
NG_008600.3:g.54038C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1536C>T MANE Select	NP_001173.2:p.Ala512=
ENST00000409134.8:c.1536C>T MANE Select	ENSP00000387123.3:p.Ala512=
NM_001182.4:c.1536C>T	NP_001173.2:p.Ala512=
NM_001201377.1:c.1452C>T	NP_001188306.1:p.Ala484=
NM_001201377.2:c.1452C>T	NP_001188306.1:p.Ala484=
NM_001202404.1:c.1425C>T	NP_001189333.1:p.Ala475=
NM_001202404.2:c.1344C>T	NP_001189333.2:p.Ala448=
ENST00000409134.7:c.1536C>T	ENSP00000387123.3:p.Ala512=
ENST00000447989.6:c.1425C>T	ENSP00000414132.2:p.Ala475=
ENST00000458249.6:c.*1445C>T	ENSP00000403929.1:n.*1445C>T
ENST00000485852.6:n.283C>T
ENST00000485852.7:n.283C>T
ENST00000497231.6:n.1746C>T
ENST00000497231.7:n.1963C>T
ENST00000553117.5:c.1344C>T	ENSP00000448593.1:p.Ala448=
ENST00000635851.1:c.1534C>T
ENST00000636225.1:c.*1480C>T	ENSP00000490797.1:n.*1480C>T
ENST00000636286.1:n.1301C>T
ENST00000636482.1:n.1070C>T
ENST00000636743.1:c.1416C>T	ENSP00000489725.1:p.Ala472=
ENST00000636808.1:c.*1345C>T	ENSP00000490833.1:n.*1345C>T
ENST00000636872.1:c.1696C>T	ENSP00000490919.1:n.1696C>T
ENST00000636879.1:c.1581C>T	ENSP00000490811.1:p.Ala527=
ENST00000636886.1:c.1335C>T	ENSP00000490371.1:p.Ala445=
ENST00000637206.1:c.1356C>T	ENSP00000489895.1:p.Ala452=
ENST00000637272.1:c.1527C>T	ENSP00000489686.1:p.Ala509=
ENST00000637292.1:c.992C>T
ENST00000637782.1:c.1536C>T	ENSP00000490024.1:p.Ala512=
ENST00000638008.1:c.*1380C>T	ENSP00000490400.1:n.*1380C>T
ENST00000638010.1:n.1482C>T
XM_011543417.1:c.1131C>T	XP_011541719.1:p.Ala377=
XM_011543417.2:c.1131C>T	XP_011541719.1:p.Ala377=