Canonical Allele Identifier: CA562281714
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126550018G>A , CM000667.2:g.126550018G>A GRCh38
NC_000005.9:g.125885710G>A , CM000667.1:g.125885710G>A GRCh37
NC_000005.8:g.125913609G>A NCBI36
NG_008600.2:g.50373C>T
NG_008600.3:g.50373C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1416-16C>T MANE Select ENSP00000387123.3:n.1416-16C>T
ENST00000458249.6:c.*1325-16C>T ENSP00000403929.1:n.*1325-16C>T
ENST00000485852.7:n.147C>T
ENST00000497231.7:n.1843-16C>T
ENST00000635851.1:c.1414-16C>T
ENST00000636062.1:n.1311-16C>T
ENST00000636225.1:c.*1360-16C>T ENSP00000490797.1:n.*1360-16C>T
ENST00000636286.1:n.1181-16C>T
ENST00000636482.1:n.950-16C>T
ENST00000636743.1:c.1296-16C>T ENSP00000489725.1:n.1296-16C>T
ENST00000636808.1:c.*1225-16C>T ENSP00000490833.1:n.*1225-16C>T
ENST00000636872.1:c.1576-16C>T ENSP00000490919.1:n.1576-16C>T
ENST00000636879.1:c.1461-16C>T ENSP00000490811.1:n.1461-16C>T
ENST00000636886.1:c.1215-16C>T ENSP00000490371.1:n.1215-16C>T
ENST00000637206.1:c.1236-16C>T ENSP00000489895.1:n.1236-16C>T
ENST00000637272.1:c.1407-16C>T ENSP00000489686.1:n.1407-16C>T
ENST00000637292.1:c.872-16C>T
ENST00000637782.1:c.1416-16C>T ENSP00000490024.1:n.1416-16C>T
ENST00000638008.1:c.*1260-16C>T ENSP00000490400.1:n.*1260-16C>T
ENST00000638010.1:n.1362-16C>T
ENST00000409134.7:c.1416-16C>T ENSP00000387123.3:n.1416-16C>T
ENST00000447989.6:c.1305-16C>T ENSP00000414132.2:n.1305-16C>T
ENST00000476328.1:n.358C>T
ENST00000485852.6:n.147C>T
ENST00000497231.6:n.1626-16C>T
ENST00000553117.5:c.1224-16C>T ENSP00000448593.1:n.1224-16C>T
NM_001182.4:c.1416-16C>T NP_001173.2:n.1416-16C>T
NM_001201377.1:c.1332-16C>T NP_001188306.1:n.1332-16C>T
NM_001202404.1:c.1305-16C>T NP_001189333.1:n.1305-16C>T
XM_011543417.1:c.1011-16C>T XP_011541719.1:n.1011-16C>T
XM_011543417.2:c.1011-16C>T XP_011541719.1:n.1011-16C>T
NM_001182.5:c.1416-16C>T MANE Select NP_001173.2:n.1416-16C>T
NM_001201377.2:c.1332-16C>T NP_001188306.1:n.1332-16C>T
NM_001202404.2:c.1224-16C>T NP_001189333.2:n.1224-16C>T