Canonical Allele Identifier: CA1580443703

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552054A= , CM000667.2:g.126552054A=	GRCh38
NC_000005.9:g.125887746A= , CM000667.1:g.125887746A=	GRCh37
NC_000005.8:g.125915645A=	NCBI36
NG_008600.2:g.48337T=
NG_008600.3:g.48337T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1284T= MANE Select	ENSP00000387123.3:p.Thr428=
ENST00000458249.6:c.*1193T=	ENSP00000403929.1:n.*1193T=
ENST00000497231.7:n.1711T=
ENST00000503281.6:c.873T=
ENST00000635851.1:c.1282T=
ENST00000636062.1:n.1179T=
ENST00000636225.1:c.*1228T=	ENSP00000490797.1:n.*1228T=
ENST00000636286.1:n.1002T=
ENST00000636482.1:n.771T=
ENST00000636743.1:c.1164T=	ENSP00000489725.1:p.Thr388=
ENST00000636808.1:c.*1093T=	ENSP00000490833.1:n.*1093T=
ENST00000636872.1:c.1444T=	ENSP00000490919.1:n.1444T=
ENST00000636879.1:c.1329T=	ENSP00000490811.1:p.Thr443=
ENST00000636886.1:c.1083T=	ENSP00000490371.1:p.Thr361=
ENST00000637206.1:c.1104T=	ENSP00000489895.1:p.Thr368=
ENST00000637272.1:c.1275T=	ENSP00000489686.1:p.Thr425=
ENST00000637292.1:c.774-1761T=
ENST00000637782.1:c.1284T=	ENSP00000490024.1:p.Thr428=
ENST00000638008.1:c.*1128T=	ENSP00000490400.1:n.*1128T=
ENST00000638010.1:n.1230T=
ENST00000409134.7:c.1284T=	ENSP00000387123.3:p.Thr428=
ENST00000447989.6:c.1173T=	ENSP00000414132.2:p.Thr391=
ENST00000476328.1:n.49T=
ENST00000497231.6:n.1494T=
ENST00000503281.5:c.873T=
ENST00000553117.5:c.1092T=	ENSP00000448593.1:p.Thr364=
NM_001182.4:c.1284T=	NP_001173.2:p.Thr428=
NM_001201377.1:c.1200T=	NP_001188306.1:p.Thr400=
NM_001202404.1:c.1173T=	NP_001189333.1:p.Thr391=
XM_011543417.1:c.879T=	XP_011541719.1:p.Thr293=
XM_011543417.2:c.879T=	XP_011541719.1:p.Thr293=
NM_001182.5:c.1284T= MANE Select	NP_001173.2:p.Thr428=
NM_001201377.2:c.1200T=	NP_001188306.1:p.Thr400=
NM_001202404.2:c.1092T=	NP_001189333.2:p.Thr364=