Canonical Allele Identifier: CA360721315

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550195C>A , CM000667.2:g.126550195C>A	GRCh38
NC_000005.9:g.125885887C>A , CM000667.1:g.125885887C>A	GRCh37
NC_000005.8:g.125913786C>A	NCBI36
NG_008600.2:g.50196G>T
NG_008600.3:g.50196G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1415+1G>T MANE Select	NP_001173.2:n.1415+1G>T
ENST00000409134.8:c.1415+1G>T MANE Select	ENSP00000387123.3:n.1415+1G>T
NM_001182.4:c.1415+1G>T	NP_001173.2:n.1415+1G>T
NM_001201377.1:c.1331+1G>T	NP_001188306.1:n.1331+1G>T
NM_001201377.2:c.1331+1G>T	NP_001188306.1:n.1331+1G>T
NM_001202404.1:c.1304+1G>T	NP_001189333.1:n.1304+1G>T
NM_001202404.2:c.1223+1G>T	NP_001189333.2:n.1223+1G>T
ENST00000409134.7:c.1415+1G>T	ENSP00000387123.3:n.1415+1G>T
ENST00000447989.6:c.1304+1G>T	ENSP00000414132.2:n.1304+1G>T
ENST00000458249.6:c.*1324+1G>T	ENSP00000403929.1:n.*1324+1G>T
ENST00000476328.1:n.181G>T
ENST00000497231.6:n.1625+1G>T
ENST00000497231.7:n.1842+1G>T
ENST00000553117.5:c.1223+1G>T	ENSP00000448593.1:n.1223+1G>T
ENST00000635851.1:c.1413+1G>T
ENST00000636062.1:n.1310+1G>T
ENST00000636225.1:c.*1359+1G>T	ENSP00000490797.1:n.*1359+1G>T
ENST00000636286.1:n.1134G>T
ENST00000636482.1:n.903G>T
ENST00000636743.1:c.1295+1G>T	ENSP00000489725.1:n.1295+1G>T
ENST00000636808.1:c.*1224+1G>T	ENSP00000490833.1:n.*1224+1G>T
ENST00000636872.1:c.1575+1G>T	ENSP00000490919.1:n.1575+1G>T
ENST00000636879.1:c.1460+1G>T	ENSP00000490811.1:n.1460+1G>T
ENST00000636886.1:c.1214+1G>T	ENSP00000490371.1:n.1214+1G>T
ENST00000637206.1:c.1235+1G>T	ENSP00000489895.1:n.1235+1G>T
ENST00000637272.1:c.1406+1G>T	ENSP00000489686.1:n.1406+1G>T
ENST00000637292.1:c.871+1G>T
ENST00000637782.1:c.1415+1G>T	ENSP00000490024.1:n.1415+1G>T
ENST00000638008.1:c.*1259+1G>T	ENSP00000490400.1:n.*1259+1G>T
ENST00000638010.1:n.1361+1G>T
XM_011543417.1:c.1010+1G>T	XP_011541719.1:n.1010+1G>T
XM_011543417.2:c.1010+1G>T	XP_011541719.1:n.1010+1G>T