Canonical Allele Identifier: CA360721124

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549983C>T , CM000667.2:g.126549983C>T	GRCh38
NC_000005.9:g.125885675C>T , CM000667.1:g.125885675C>T	GRCh37
NC_000005.8:g.125913574C>T	NCBI36
NG_008600.2:g.50408G>A
NG_008600.3:g.50408G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1435G>A MANE Select	NP_001173.2:p.Gly479Ser
ENST00000409134.8:c.1435G>A MANE Select	ENSP00000387123.3:p.Gly479Ser
NM_001182.4:c.1435G>A	NP_001173.2:p.Gly479Ser
NM_001201377.1:c.1351G>A	NP_001188306.1:p.Gly451Ser
NM_001201377.2:c.1351G>A	NP_001188306.1:p.Gly451Ser
NM_001202404.1:c.1324G>A	NP_001189333.1:p.Gly442Ser
NM_001202404.2:c.1243G>A	NP_001189333.2:p.Gly415Ser
ENST00000409134.7:c.1435G>A	ENSP00000387123.3:p.Gly479Ser
ENST00000447989.6:c.1324G>A	ENSP00000414132.2:p.Gly442Ser
ENST00000458249.6:c.*1344G>A	ENSP00000403929.1:n.*1344G>A
ENST00000476328.1:n.393G>A
ENST00000485852.6:n.182G>A
ENST00000485852.7:n.182G>A
ENST00000497231.6:n.1645G>A
ENST00000497231.7:n.1862G>A
ENST00000553117.5:c.1243G>A	ENSP00000448593.1:p.Gly415Ser
ENST00000635851.1:c.1433G>A
ENST00000636062.1:n.1330G>A
ENST00000636225.1:c.*1379G>A	ENSP00000490797.1:n.*1379G>A
ENST00000636286.1:n.1200G>A
ENST00000636482.1:n.969G>A
ENST00000636743.1:c.1315G>A	ENSP00000489725.1:p.Gly439Ser
ENST00000636808.1:c.*1244G>A	ENSP00000490833.1:n.*1244G>A
ENST00000636872.1:c.1595G>A	ENSP00000490919.1:n.1595G>A
ENST00000636879.1:c.1480G>A	ENSP00000490811.1:p.Gly494Ser
ENST00000636886.1:c.1234G>A	ENSP00000490371.1:p.Gly412Ser
ENST00000637206.1:c.1255G>A	ENSP00000489895.1:p.Gly419Ser
ENST00000637272.1:c.1426G>A	ENSP00000489686.1:p.Gly476Ser
ENST00000637292.1:c.891G>A
ENST00000637782.1:c.1435G>A	ENSP00000490024.1:p.Gly479Ser
ENST00000638008.1:c.*1279G>A	ENSP00000490400.1:n.*1279G>A
ENST00000638010.1:n.1381G>A
XM_011543417.1:c.1030G>A	XP_011541719.1:p.Gly344Ser
XM_011543417.2:c.1030G>A	XP_011541719.1:p.Gly344Ser