Canonical Allele Identifier: CA360721926

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550284C>A , CM000667.2:g.126550284C>A	GRCh38
NC_000005.9:g.125885976C>A , CM000667.1:g.125885976C>A	GRCh37
NC_000005.8:g.125913875C>A	NCBI36
NG_008600.2:g.50107G>T
NG_008600.3:g.50107G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1327G>T MANE Select	NP_001173.2:p.Glu443Ter
ENST00000409134.8:c.1327G>T MANE Select	ENSP00000387123.3:p.Glu443Ter
NM_001182.4:c.1327G>T	NP_001173.2:p.Glu443Ter
NM_001201377.1:c.1243G>T	NP_001188306.1:p.Glu415Ter
NM_001201377.2:c.1243G>T	NP_001188306.1:p.Glu415Ter
NM_001202404.1:c.1216G>T	NP_001189333.1:p.Glu406Ter
NM_001202404.2:c.1135G>T	NP_001189333.2:p.Glu379Ter
ENST00000409134.7:c.1327G>T	ENSP00000387123.3:p.Glu443Ter
ENST00000447989.6:c.1216G>T	ENSP00000414132.2:p.Glu406Ter
ENST00000458249.6:c.*1236G>T	ENSP00000403929.1:n.*1236G>T
ENST00000476328.1:n.92G>T
ENST00000497231.6:n.1537G>T
ENST00000497231.7:n.1754G>T
ENST00000503281.6:c.916G>T
ENST00000553117.5:c.1135G>T	ENSP00000448593.1:p.Glu379Ter
ENST00000635851.1:c.1325G>T
ENST00000636062.1:n.1222G>T
ENST00000636225.1:c.*1271G>T	ENSP00000490797.1:n.*1271G>T
ENST00000636286.1:n.1045G>T
ENST00000636482.1:n.814G>T
ENST00000636743.1:c.1207G>T	ENSP00000489725.1:p.Glu403Ter
ENST00000636808.1:c.*1136G>T	ENSP00000490833.1:n.*1136G>T
ENST00000636872.1:c.1487G>T	ENSP00000490919.1:n.1487G>T
ENST00000636879.1:c.1372G>T	ENSP00000490811.1:p.Glu458Ter
ENST00000636886.1:c.1126G>T	ENSP00000490371.1:p.Glu376Ter
ENST00000637206.1:c.1147G>T	ENSP00000489895.1:p.Glu383Ter
ENST00000637272.1:c.1318G>T	ENSP00000489686.1:p.Glu440Ter
ENST00000637292.1:c.783G>T
ENST00000637782.1:c.1327G>T	ENSP00000490024.1:p.Glu443Ter
ENST00000638008.1:c.*1171G>T	ENSP00000490400.1:n.*1171G>T
ENST00000638010.1:n.1273G>T
XM_011543417.1:c.922G>T	XP_011541719.1:p.Glu308Ter
XM_011543417.2:c.922G>T	XP_011541719.1:p.Glu308Ter