Canonical Allele Identifier: CA360724548

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126555935C>T , CM000667.2:g.126555935C>T	GRCh38
NC_000005.9:g.125891627C>T , CM000667.1:g.125891627C>T	GRCh37
NC_000005.8:g.125919526C>T	NCBI36
NG_008600.2:g.44456G>A
NG_008600.3:g.44456G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1089G>A MANE Select	NP_001173.2:p.Trp363Ter
ENST00000409134.8:c.1089G>A MANE Select	ENSP00000387123.3:p.Trp363Ter
NM_001182.4:c.1089G>A	NP_001173.2:p.Trp363Ter
NM_001201377.1:c.1005G>A	NP_001188306.1:p.Trp335Ter
NM_001201377.2:c.1005G>A	NP_001188306.1:p.Trp335Ter
NM_001202404.1:c.1089+3305G>A	NP_001189333.1:n.1089+3305G>A
NM_001202404.2:c.1008+3305G>A	NP_001189333.2:n.1008+3305G>A
ENST00000409134.7:c.1089G>A	ENSP00000387123.3:p.Trp363Ter
ENST00000447989.6:c.1089+3305G>A	ENSP00000414132.2:n.1089+3305G>A
ENST00000458249.6:c.*998G>A	ENSP00000403929.1:n.*998G>A
ENST00000497231.6:n.1299G>A
ENST00000497231.7:n.1516G>A
ENST00000503281.5:c.678G>A
ENST00000503281.6:c.678G>A
ENST00000553117.5:c.1008+3305G>A	ENSP00000448593.1:n.1008+3305G>A
ENST00000635851.1:c.1087G>A
ENST00000636062.1:n.984G>A
ENST00000636225.1:c.*1033G>A	ENSP00000490797.1:n.*1033G>A
ENST00000636286.1:n.807G>A
ENST00000636482.1:n.576G>A
ENST00000636743.1:c.969G>A	ENSP00000489725.1:p.Trp323Ter
ENST00000636808.1:c.*898G>A	ENSP00000490833.1:n.*898G>A
ENST00000636872.1:c.1249G>A	ENSP00000490919.1:n.1249G>A
ENST00000636879.1:c.1134G>A	ENSP00000490811.1:p.Trp378Ter
ENST00000636886.1:c.888G>A	ENSP00000490371.1:p.Trp296Ter
ENST00000637206.1:c.914-1542G>A	ENSP00000489895.1:n.914-1542G>A
ENST00000637272.1:c.1080G>A	ENSP00000489686.1:p.Trp360Ter
ENST00000637292.1:c.662G>A
ENST00000637782.1:c.1089G>A	ENSP00000490024.1:p.Trp363Ter
ENST00000637964.1:c.1035G>A	ENSP00000490291.1:p.Trp345Ter
ENST00000638008.1:c.*933G>A	ENSP00000490400.1:n.*933G>A
XM_011543417.1:c.684G>A	XP_011541719.1:p.Trp228Ter
XM_011543417.2:c.684G>A	XP_011541719.1:p.Trp228Ter