Canonical Allele Identifier: CA360719368

Gene: ALDH7A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1513G>A MANE Select	NP_001173.2:p.Gly505Ser
ENST00000409134.8:c.1513G>A MANE Select	ENSP00000387123.3:p.Gly505Ser
NM_001182.4:c.1513G>A	NP_001173.2:p.Gly505Ser
NM_001201377.1:c.1429G>A	NP_001188306.1:p.Gly477Ser
NM_001201377.2:c.1429G>A	NP_001188306.1:p.Gly477Ser
NM_001202404.1:c.1402G>A	NP_001189333.1:p.Gly468Ser
NM_001202404.2:c.1321G>A	NP_001189333.2:p.Gly441Ser
ENST00000409134.7:c.1513G>A	ENSP00000387123.3:p.Gly505Ser
ENST00000447989.6:c.1402G>A	ENSP00000414132.2:p.Gly468Ser
ENST00000458249.6:c.*1422G>A	ENSP00000403929.1:n.*1422G>A
ENST00000485852.6:n.260G>A
ENST00000485852.7:n.260G>A
ENST00000497231.6:n.1723G>A
ENST00000497231.7:n.1940G>A
ENST00000553117.5:c.1321G>A	ENSP00000448593.1:p.Gly441Ser
ENST00000635851.1:c.1511G>A
ENST00000636225.1:c.*1457G>A	ENSP00000490797.1:n.*1457G>A
ENST00000636286.1:n.1278G>A
ENST00000636482.1:n.1047G>A
ENST00000636743.1:c.1393G>A	ENSP00000489725.1:p.Gly465Ser
ENST00000636808.1:c.*1322G>A	ENSP00000490833.1:n.*1322G>A
ENST00000636872.1:c.1673G>A	ENSP00000490919.1:n.1673G>A
ENST00000636879.1:c.1558G>A	ENSP00000490811.1:p.Gly520Ser
ENST00000636886.1:c.1312G>A	ENSP00000490371.1:p.Gly438Ser
ENST00000637206.1:c.1333G>A	ENSP00000489895.1:p.Gly445Ser
ENST00000637272.1:c.1504G>A	ENSP00000489686.1:p.Gly502Ser
ENST00000637292.1:c.969G>A
ENST00000637782.1:c.1513G>A	ENSP00000490024.1:p.Gly505Ser
ENST00000638008.1:c.*1357G>A	ENSP00000490400.1:n.*1357G>A
ENST00000638010.1:n.1459G>A
XM_011543417.1:c.1108G>A	XP_011541719.1:p.Gly370Ser
XM_011543417.2:c.1108G>A	XP_011541719.1:p.Gly370Ser