Canonical Allele Identifier: CA1580440432
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126545048A= , CM000667.2:g.126545048A= GRCh38
NC_000005.9:g.125880740A= , CM000667.1:g.125880740A= GRCh37
NC_000005.8:g.125908639A= NCBI36
NG_008600.2:g.55343T=
NG_008600.3:g.55343T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1566-29T= MANE Select ENSP00000387123.3:n.1566-29T=
ENST00000458249.6:c.*1475-29T= ENSP00000403929.1:n.*1475-29T=
ENST00000485852.7:n.313-29T=
ENST00000497231.7:n.1993-29T=
ENST00000635851.1:c.1563+1276T=
ENST00000636286.1:n.1331-29T=
ENST00000636482.1:n.1100-29T=
ENST00000636743.1:c.1446-29T= ENSP00000489725.1:n.1446-29T=
ENST00000636808.1:c.*1375-29T= ENSP00000490833.1:n.*1375-29T=
ENST00000636872.1:c.1726-29T= ENSP00000490919.1:n.1726-29T=
ENST00000636879.1:c.1611-29T= ENSP00000490811.1:n.1611-29T=
ENST00000636886.1:c.1365-29T= ENSP00000490371.1:n.1365-29T=
ENST00000637206.1:c.1386-29T= ENSP00000489895.1:n.1386-29T=
ENST00000637272.1:c.1557-29T= ENSP00000489686.1:n.1557-29T=
ENST00000637292.1:c.1022-29T=
ENST00000637782.1:c.1565+1276T= ENSP00000490024.1:n.1565+1276T=
ENST00000638008.1:c.*1410-29T= ENSP00000490400.1:n.*1410-29T=
ENST00000638010.1:n.1512-29T=
ENST00000409134.7:c.1566-29T= ENSP00000387123.3:n.1566-29T=
ENST00000447989.6:c.1455-29T= ENSP00000414132.2:n.1455-29T=
ENST00000485852.6:n.313-29T=
ENST00000497231.6:n.1776-29T=
ENST00000553117.5:c.1374-29T= ENSP00000448593.1:n.1374-29T=
NM_001182.4:c.1566-29T= NP_001173.2:n.1566-29T=
NM_001201377.1:c.1482-29T= NP_001188306.1:n.1482-29T=
NM_001202404.1:c.1455-29T= NP_001189333.1:n.1455-29T=
XM_011543417.1:c.1161-29T= XP_011541719.1:n.1161-29T=
XM_011543417.2:c.1161-29T= XP_011541719.1:n.1161-29T=
NM_001182.5:c.1566-29T= MANE Select NP_001173.2:n.1566-29T=
NM_001201377.2:c.1482-29T= NP_001188306.1:n.1482-29T=
NM_001202404.2:c.1374-29T= NP_001189333.2:n.1374-29T=