Canonical Allele Identifier: CA2580072501
Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2419943
ClinVar RCV Id: RCV003118468

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126546414A>T , CM000667.2:g.126546414A>T GRCh38
NC_000005.9:g.125882106A>T , CM000667.1:g.125882106A>T GRCh37
NC_000005.8:g.125910005A>T NCBI36
NG_008600.2:g.53977T>A
NG_008600.3:g.53977T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1490-15T>A MANE Select ENSP00000387123.3:n.1490-15T>A
ENST00000458249.6:c.*1399-15T>A ENSP00000403929.1:n.*1399-15T>A
ENST00000485852.7:n.237-15T>A
ENST00000497231.7:n.1917-15T>A
ENST00000635851.1:c.1488-15T>A
ENST00000636225.1:c.*1434-15T>A ENSP00000490797.1:n.*1434-15T>A
ENST00000636286.1:n.1255-15T>A
ENST00000636482.1:n.1024-15T>A
ENST00000636743.1:c.1370-15T>A ENSP00000489725.1:n.1370-15T>A
ENST00000636808.1:c.*1299-15T>A ENSP00000490833.1:n.*1299-15T>A
ENST00000636872.1:c.1650-15T>A ENSP00000490919.1:n.1650-15T>A
ENST00000636879.1:c.1535-15T>A ENSP00000490811.1:n.1535-15T>A
ENST00000636886.1:c.1289-15T>A ENSP00000490371.1:n.1289-15T>A
ENST00000637206.1:c.1310-15T>A ENSP00000489895.1:n.1310-15T>A
ENST00000637272.1:c.1481-15T>A ENSP00000489686.1:n.1481-15T>A
ENST00000637292.1:c.946-15T>A
ENST00000637782.1:c.1490-15T>A ENSP00000490024.1:n.1490-15T>A
ENST00000638008.1:c.*1334-15T>A ENSP00000490400.1:n.*1334-15T>A
ENST00000638010.1:n.1436-15T>A
ENST00000409134.7:c.1490-15T>A ENSP00000387123.3:n.1490-15T>A
ENST00000447989.6:c.1379-15T>A ENSP00000414132.2:n.1379-15T>A
ENST00000485852.6:n.237-15T>A
ENST00000497231.6:n.1700-15T>A
ENST00000553117.5:c.1298-15T>A ENSP00000448593.1:n.1298-15T>A
NM_001182.4:c.1490-15T>A NP_001173.2:n.1490-15T>A
NM_001201377.1:c.1406-15T>A NP_001188306.1:n.1406-15T>A
NM_001202404.1:c.1379-15T>A NP_001189333.1:n.1379-15T>A
XM_011543417.1:c.1085-15T>A XP_011541719.1:n.1085-15T>A
XM_011543417.2:c.1085-15T>A XP_011541719.1:n.1085-15T>A
NM_001182.5:c.1490-15T>A MANE Select NP_001173.2:n.1490-15T>A
NM_001201377.2:c.1406-15T>A NP_001188306.1:n.1406-15T>A
NM_001202404.2:c.1298-15T>A NP_001189333.2:n.1298-15T>A