Canonical Allele Identifier: CA1580443694

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552037T= , CM000667.2:g.126552037T=	GRCh38
NC_000005.9:g.125887729T= , CM000667.1:g.125887729T=	GRCh37
NC_000005.8:g.125915628T=	NCBI36
NG_008600.2:g.48354A=
NG_008600.3:g.48354A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1301A= MANE Select	NP_001173.2:p.Tyr434=
ENST00000409134.8:c.1301A= MANE Select	ENSP00000387123.3:p.Tyr434=
NM_001182.4:c.1301A=	NP_001173.2:p.Tyr434=
NM_001201377.1:c.1217A=	NP_001188306.1:p.Tyr406=
NM_001201377.2:c.1217A=	NP_001188306.1:p.Tyr406=
NM_001202404.1:c.1190A=	NP_001189333.1:p.Tyr397=
NM_001202404.2:c.1109A=	NP_001189333.2:p.Tyr370=
ENST00000409134.7:c.1301A=	ENSP00000387123.3:p.Tyr434=
ENST00000447989.6:c.1190A=	ENSP00000414132.2:p.Tyr397=
ENST00000458249.6:c.*1210A=	ENSP00000403929.1:n.*1210A=
ENST00000476328.1:n.66A=
ENST00000497231.6:n.1511A=
ENST00000497231.7:n.1728A=
ENST00000503281.5:c.890A=
ENST00000503281.6:c.890A=
ENST00000553117.5:c.1109A=	ENSP00000448593.1:p.Tyr370=
ENST00000635851.1:c.1299A=
ENST00000636062.1:n.1196A=
ENST00000636225.1:c.*1245A=	ENSP00000490797.1:n.*1245A=
ENST00000636286.1:n.1019A=
ENST00000636482.1:n.788A=
ENST00000636743.1:c.1181A=	ENSP00000489725.1:p.Tyr394=
ENST00000636808.1:c.*1110A=	ENSP00000490833.1:n.*1110A=
ENST00000636872.1:c.1461A=	ENSP00000490919.1:n.1461A=
ENST00000636879.1:c.1346A=	ENSP00000490811.1:p.Tyr449=
ENST00000636886.1:c.1100A=	ENSP00000490371.1:p.Tyr367=
ENST00000637206.1:c.1121A=	ENSP00000489895.1:p.Tyr374=
ENST00000637272.1:c.1292A=	ENSP00000489686.1:p.Tyr431=
ENST00000637292.1:c.774-1744A=
ENST00000637782.1:c.1301A=	ENSP00000490024.1:p.Tyr434=
ENST00000638008.1:c.*1145A=	ENSP00000490400.1:n.*1145A=
ENST00000638010.1:n.1247A=
XM_011543417.1:c.896A=	XP_011541719.1:p.Tyr299=
XM_011543417.2:c.896A=	XP_011541719.1:p.Tyr299=