Canonical Allele Identifier: CA360721090

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549976A>T , CM000667.2:g.126549976A>T	GRCh38
NC_000005.9:g.125885668A>T , CM000667.1:g.125885668A>T	GRCh37
NC_000005.8:g.125913567A>T	NCBI36
NG_008600.2:g.50415T>A
NG_008600.3:g.50415T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1442T>A MANE Select	ENSP00000387123.3:p.Val481Glu
ENST00000458249.6:c.*1351T>A	ENSP00000403929.1:n.*1351T>A
ENST00000485852.7:n.189T>A
ENST00000497231.7:n.1869T>A
ENST00000635851.1:c.1440T>A
ENST00000636062.1:n.1337T>A
ENST00000636225.1:c.*1386T>A	ENSP00000490797.1:n.*1386T>A
ENST00000636286.1:n.1207T>A
ENST00000636482.1:n.976T>A
ENST00000636743.1:c.1322T>A	ENSP00000489725.1:p.Val441Glu
ENST00000636808.1:c.*1251T>A	ENSP00000490833.1:n.*1251T>A
ENST00000636872.1:c.1602T>A	ENSP00000490919.1:n.1602T>A
ENST00000636879.1:c.1487T>A	ENSP00000490811.1:p.Val496Glu
ENST00000636886.1:c.1241T>A	ENSP00000490371.1:p.Val414Glu
ENST00000637206.1:c.1262T>A	ENSP00000489895.1:p.Val421Glu
ENST00000637272.1:c.1433T>A	ENSP00000489686.1:p.Val478Glu
ENST00000637292.1:c.898T>A
ENST00000637782.1:c.1442T>A	ENSP00000490024.1:p.Val481Glu
ENST00000638008.1:c.*1286T>A	ENSP00000490400.1:n.*1286T>A
ENST00000638010.1:n.1388T>A
ENST00000409134.7:c.1442T>A	ENSP00000387123.3:p.Val481Glu
ENST00000447989.6:c.1331T>A	ENSP00000414132.2:p.Val444Glu
ENST00000476328.1:n.400T>A
ENST00000485852.6:n.189T>A
ENST00000497231.6:n.1652T>A
ENST00000553117.5:c.1250T>A	ENSP00000448593.1:p.Val417Glu
NM_001182.4:c.1442T>A	NP_001173.2:p.Val481Glu
NM_001201377.1:c.1358T>A	NP_001188306.1:p.Val453Glu
NM_001202404.1:c.1331T>A	NP_001189333.1:p.Val444Glu
XM_011543417.1:c.1037T>A	XP_011541719.1:p.Val346Glu
XM_011543417.2:c.1037T>A	XP_011541719.1:p.Val346Glu
NM_001182.5:c.1442T>A MANE Select	NP_001173.2:p.Val481Glu
NM_001201377.2:c.1358T>A	NP_001188306.1:p.Val453Glu
NM_001202404.2:c.1250T>A	NP_001189333.2:p.Val417Glu