Canonical Allele Identifier: CA360719079
Gene: ALDH7A1 HGNC NCBI

Linked Data

dbSNP Id: rs771651423

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126546355C>A , CM000667.2:g.126546355C>A GRCh38
NC_000005.9:g.125882047C>A , CM000667.1:g.125882047C>A GRCh37
NC_000005.8:g.125909946C>A NCBI36
NG_008600.2:g.54036G>T
NG_008600.3:g.54036G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1534G>T MANE Select ENSP00000387123.3:p.Ala512Ser
ENST00000458249.6:c.*1443G>T ENSP00000403929.1:n.*1443G>T
ENST00000485852.7:n.281G>T
ENST00000497231.7:n.1961G>T
ENST00000635851.1:c.1532G>T
ENST00000636225.1:c.*1478G>T ENSP00000490797.1:n.*1478G>T
ENST00000636286.1:n.1299G>T
ENST00000636482.1:n.1068G>T
ENST00000636743.1:c.1414G>T ENSP00000489725.1:p.Ala472Ser
ENST00000636808.1:c.*1343G>T ENSP00000490833.1:n.*1343G>T
ENST00000636872.1:c.1694G>T ENSP00000490919.1:n.1694G>T
ENST00000636879.1:c.1579G>T ENSP00000490811.1:p.Ala527Ser
ENST00000636886.1:c.1333G>T ENSP00000490371.1:p.Ala445Ser
ENST00000637206.1:c.1354G>T ENSP00000489895.1:p.Ala452Ser
ENST00000637272.1:c.1525G>T ENSP00000489686.1:p.Ala509Ser
ENST00000637292.1:c.990G>T
ENST00000637782.1:c.1534G>T ENSP00000490024.1:p.Ala512Ser
ENST00000638008.1:c.*1378G>T ENSP00000490400.1:n.*1378G>T
ENST00000638010.1:n.1480G>T
ENST00000409134.7:c.1534G>T ENSP00000387123.3:p.Ala512Ser
ENST00000447989.6:c.1423G>T ENSP00000414132.2:p.Ala475Ser
ENST00000485852.6:n.281G>T
ENST00000497231.6:n.1744G>T
ENST00000553117.5:c.1342G>T ENSP00000448593.1:p.Ala448Ser
NM_001182.4:c.1534G>T NP_001173.2:p.Ala512Ser
NM_001201377.1:c.1450G>T NP_001188306.1:p.Ala484Ser
NM_001202404.1:c.1423G>T NP_001189333.1:p.Ala475Ser
XM_011543417.1:c.1129G>T XP_011541719.1:p.Ala377Ser
XM_011543417.2:c.1129G>T XP_011541719.1:p.Ala377Ser
NM_001182.5:c.1534G>T MANE Select NP_001173.2:p.Ala512Ser
NM_001201377.2:c.1450G>T NP_001188306.1:p.Ala484Ser
NM_001202404.2:c.1342G>T NP_001189333.2:p.Ala448Ser