Canonical Allele Identifier: CA3389426

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550181T>C , CM000667.2:g.126550181T>C	GRCh38
NC_000005.9:g.125885873T>C , CM000667.1:g.125885873T>C	GRCh37
NC_000005.8:g.125913772T>C	NCBI36
NG_008600.2:g.50210A>G
NG_008600.3:g.50210A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1415+15A>G MANE Select	NP_001173.2:n.1415+15A>G
ENST00000409134.8:c.1415+15A>G MANE Select	ENSP00000387123.3:n.1415+15A>G
NM_001182.4:c.1415+15A>G	NP_001173.2:n.1415+15A>G
NM_001201377.1:c.1331+15A>G	NP_001188306.1:n.1331+15A>G
NM_001201377.2:c.1331+15A>G	NP_001188306.1:n.1331+15A>G
NM_001202404.1:c.1304+15A>G	NP_001189333.1:n.1304+15A>G
NM_001202404.2:c.1223+15A>G	NP_001189333.2:n.1223+15A>G
ENST00000409134.7:c.1415+15A>G	ENSP00000387123.3:n.1415+15A>G
ENST00000447989.6:c.1304+15A>G	ENSP00000414132.2:n.1304+15A>G
ENST00000458249.6:c.*1324+15A>G	ENSP00000403929.1:n.*1324+15A>G
ENST00000476328.1:n.195A>G
ENST00000497231.6:n.1625+15A>G
ENST00000497231.7:n.1842+15A>G
ENST00000553117.5:c.1223+15A>G	ENSP00000448593.1:n.1223+15A>G
ENST00000635851.1:c.1413+15A>G
ENST00000636062.1:n.1310+15A>G
ENST00000636225.1:c.*1359+15A>G	ENSP00000490797.1:n.*1359+15A>G
ENST00000636286.1:n.1148A>G
ENST00000636482.1:n.917A>G
ENST00000636743.1:c.1295+15A>G	ENSP00000489725.1:n.1295+15A>G
ENST00000636808.1:c.*1224+15A>G	ENSP00000490833.1:n.*1224+15A>G
ENST00000636872.1:c.1575+15A>G	ENSP00000490919.1:n.1575+15A>G
ENST00000636879.1:c.1460+15A>G	ENSP00000490811.1:n.1460+15A>G
ENST00000636886.1:c.1214+15A>G	ENSP00000490371.1:n.1214+15A>G
ENST00000637206.1:c.1235+15A>G	ENSP00000489895.1:n.1235+15A>G
ENST00000637272.1:c.1406+15A>G	ENSP00000489686.1:n.1406+15A>G
ENST00000637292.1:c.871+15A>G
ENST00000637782.1:c.1415+15A>G	ENSP00000490024.1:n.1415+15A>G
ENST00000638008.1:c.*1259+15A>G	ENSP00000490400.1:n.*1259+15A>G
ENST00000638010.1:n.1361+15A>G
XM_011543417.1:c.1010+15A>G	XP_011541719.1:n.1010+15A>G
XM_011543417.2:c.1010+15A>G	XP_011541719.1:n.1010+15A>G