Canonical Allele Identifier: CA1580440407

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544988C= , CM000667.2:g.126544988C=	GRCh38
NC_000005.9:g.125880680C= , CM000667.1:g.125880680C=	GRCh37
NC_000005.8:g.125908579C=	NCBI36
NG_008600.2:g.55403G=
NG_008600.3:g.55403G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1597G= MANE Select	ENSP00000387123.3:p.Ala533=
ENST00000458249.6:c.*1506G=	ENSP00000403929.1:n.*1506G=
ENST00000485852.7:n.344G=
ENST00000497231.7:n.2024G=
ENST00000635851.1:c.1563+1336G=
ENST00000636286.1:n.1362G=
ENST00000636482.1:n.1131G=
ENST00000636743.1:c.1477G=	ENSP00000489725.1:p.Ala493=
ENST00000636808.1:c.*1406G=	ENSP00000490833.1:n.*1406G=
ENST00000636872.1:c.1757G=	ENSP00000490919.1:n.1757G=
ENST00000636879.1:c.1642G=	ENSP00000490811.1:p.Ala548=
ENST00000636886.1:c.1396G=	ENSP00000490371.1:p.Ala466=
ENST00000637206.1:c.1417G=	ENSP00000489895.1:p.Ala473=
ENST00000637272.1:c.1588G=	ENSP00000489686.1:p.Ala530=
ENST00000637292.1:c.1053G=
ENST00000637782.1:c.1565+1336G=	ENSP00000490024.1:n.1565+1336G=
ENST00000638008.1:c.*1441G=	ENSP00000490400.1:n.*1441G=
ENST00000638010.1:n.1543G=
ENST00000409134.7:c.1597G=	ENSP00000387123.3:p.Ala533=
ENST00000447989.6:c.1486G=	ENSP00000414132.2:p.Ala496=
ENST00000485852.6:n.344G=
ENST00000497231.6:n.1807G=
ENST00000553117.5:c.1405G=	ENSP00000448593.1:p.Ala469=
NM_001182.4:c.1597G=	NP_001173.2:p.Ala533=
NM_001201377.1:c.1513G=	NP_001188306.1:p.Ala505=
NM_001202404.1:c.1486G=	NP_001189333.1:p.Ala496=
XM_011543417.1:c.1192G=	XP_011541719.1:p.Ala398=
XM_011543417.2:c.1192G=	XP_011541719.1:p.Ala398=
NM_001182.5:c.1597G= MANE Select	NP_001173.2:p.Ala533=
NM_001201377.2:c.1513G=	NP_001188306.1:p.Ala505=
NM_001202404.2:c.1405G=	NP_001189333.2:p.Ala469=