Canonical Allele Identifier: CA2675066670
Gene: ALDH7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126545009_126545012dup , CM000667.2:g.126545009_126545012dup GRCh38
NC_000005.9:g.125880701_125880704dup , CM000667.1:g.125880701_125880704dup GRCh37
NC_000005.8:g.125908600_125908603dup NCBI36
NG_008600.2:g.55380_55383dup
NG_008600.3:g.55380_55383dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1574_1577dup MANE Select ENSP00000387123.3:p.Tyr526Ter
ENST00000458249.6:c.*1483_*1486dup ENSP00000403929.1:n.*1483_*1486dup
ENST00000485852.7:n.321_324dup
ENST00000497231.7:n.2001_2004dup
ENST00000635851.1:c.1563+1313_1563+1316dup
ENST00000636286.1:n.1339_1342dup
ENST00000636482.1:n.1108_1111dup
ENST00000636743.1:c.1454_1457dup ENSP00000489725.1:p.Tyr486Ter
ENST00000636808.1:c.*1383_*1386dup ENSP00000490833.1:n.*1383_*1386dup
ENST00000636872.1:c.1734_1737dup ENSP00000490919.1:n.1734_1737dup
ENST00000636879.1:c.1619_1622dup ENSP00000490811.1:p.Tyr541Ter
ENST00000636886.1:c.1373_1376dup ENSP00000490371.1:p.Tyr459Ter
ENST00000637206.1:c.1394_1397dup ENSP00000489895.1:p.Tyr466Ter
ENST00000637272.1:c.1565_1568dup ENSP00000489686.1:p.Tyr523Ter
ENST00000637292.1:c.1030_1033dup
ENST00000637782.1:c.1565+1313_1565+1316dup ENSP00000490024.1:n.1565+1313_1565+1316dup
ENST00000638008.1:c.*1418_*1421dup ENSP00000490400.1:n.*1418_*1421dup
ENST00000638010.1:n.1520_1523dup
ENST00000409134.7:c.1574_1577dup ENSP00000387123.3:p.Tyr526Ter
ENST00000447989.6:c.1463_1466dup ENSP00000414132.2:p.Tyr489Ter
ENST00000485852.6:n.321_324dup
ENST00000497231.6:n.1784_1787dup
ENST00000553117.5:c.1382_1385dup ENSP00000448593.1:p.Tyr462Ter
NM_001182.4:c.1574_1577dup NP_001173.2:p.Tyr526Ter
NM_001201377.1:c.1490_1493dup NP_001188306.1:p.Tyr498Ter
NM_001202404.1:c.1463_1466dup NP_001189333.1:p.Tyr489Ter
XM_011543417.1:c.1169_1172dup XP_011541719.1:p.Tyr391Ter
XM_011543417.2:c.1169_1172dup XP_011541719.1:p.Tyr391Ter
NM_001182.5:c.1574_1577dup MANE Select NP_001173.2:p.Tyr526Ter
NM_001201377.2:c.1490_1493dup NP_001188306.1:p.Tyr498Ter
NM_001202404.2:c.1382_1385dup NP_001189333.2:p.Tyr462Ter