Canonical Allele Identifier: CA1580440994

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546376C= , CM000667.2:g.126546376C=	GRCh38
NC_000005.9:g.125882068C= , CM000667.1:g.125882068C=	GRCh37
NC_000005.8:g.125909967C=	NCBI36
NG_008600.2:g.54015G=
NG_008600.3:g.54015G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1513G= MANE Select	NP_001173.2:p.Gly505=
ENST00000409134.8:c.1513G= MANE Select	ENSP00000387123.3:p.Gly505=
NM_001182.4:c.1513G=	NP_001173.2:p.Gly505=
NM_001201377.1:c.1429G=	NP_001188306.1:p.Gly477=
NM_001201377.2:c.1429G=	NP_001188306.1:p.Gly477=
NM_001202404.1:c.1402G=	NP_001189333.1:p.Gly468=
NM_001202404.2:c.1321G=	NP_001189333.2:p.Gly441=
ENST00000409134.7:c.1513G=	ENSP00000387123.3:p.Gly505=
ENST00000447989.6:c.1402G=	ENSP00000414132.2:p.Gly468=
ENST00000458249.6:c.*1422G=	ENSP00000403929.1:n.*1422G=
ENST00000485852.6:n.260G=
ENST00000485852.7:n.260G=
ENST00000497231.6:n.1723G=
ENST00000497231.7:n.1940G=
ENST00000553117.5:c.1321G=	ENSP00000448593.1:p.Gly441=
ENST00000635851.1:c.1511G=
ENST00000636225.1:c.*1457G=	ENSP00000490797.1:n.*1457G=
ENST00000636286.1:n.1278G=
ENST00000636482.1:n.1047G=
ENST00000636743.1:c.1393G=	ENSP00000489725.1:p.Gly465=
ENST00000636808.1:c.*1322G=	ENSP00000490833.1:n.*1322G=
ENST00000636872.1:c.1673G=	ENSP00000490919.1:n.1673G=
ENST00000636879.1:c.1558G=	ENSP00000490811.1:p.Gly520=
ENST00000636886.1:c.1312G=	ENSP00000490371.1:p.Gly438=
ENST00000637206.1:c.1333G=	ENSP00000489895.1:p.Gly445=
ENST00000637272.1:c.1504G=	ENSP00000489686.1:p.Gly502=
ENST00000637292.1:c.969G=
ENST00000637782.1:c.1513G=	ENSP00000490024.1:p.Gly505=
ENST00000638008.1:c.*1357G=	ENSP00000490400.1:n.*1357G=
ENST00000638010.1:n.1459G=
XM_011543417.1:c.1108G=	XP_011541719.1:p.Gly370=
XM_011543417.2:c.1108G=	XP_011541719.1:p.Gly370=