Canonical Allele Identifier: CA126882227
Gene: ALDH7A1 HGNC NCBI

Linked Data

dbSNP Id: rs941060223

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126545040A>T , CM000667.2:g.126545040A>T GRCh38
NC_000005.9:g.125880732A>T , CM000667.1:g.125880732A>T GRCh37
NC_000005.8:g.125908631A>T NCBI36
NG_008600.2:g.55351T>A
NG_008600.3:g.55351T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1566-21T>A MANE Select ENSP00000387123.3:n.1566-21T>A
ENST00000458249.6:c.*1475-21T>A ENSP00000403929.1:n.*1475-21T>A
ENST00000485852.7:n.313-21T>A
ENST00000497231.7:n.1993-21T>A
ENST00000635851.1:c.1563+1284T>A
ENST00000636286.1:n.1331-21T>A
ENST00000636482.1:n.1100-21T>A
ENST00000636743.1:c.1446-21T>A ENSP00000489725.1:n.1446-21T>A
ENST00000636808.1:c.*1375-21T>A ENSP00000490833.1:n.*1375-21T>A
ENST00000636872.1:c.1726-21T>A ENSP00000490919.1:n.1726-21T>A
ENST00000636879.1:c.1611-21T>A ENSP00000490811.1:n.1611-21T>A
ENST00000636886.1:c.1365-21T>A ENSP00000490371.1:n.1365-21T>A
ENST00000637206.1:c.1386-21T>A ENSP00000489895.1:n.1386-21T>A
ENST00000637272.1:c.1557-21T>A ENSP00000489686.1:n.1557-21T>A
ENST00000637292.1:c.1022-21T>A
ENST00000637782.1:c.1565+1284T>A ENSP00000490024.1:n.1565+1284T>A
ENST00000638008.1:c.*1410-21T>A ENSP00000490400.1:n.*1410-21T>A
ENST00000638010.1:n.1512-21T>A
ENST00000409134.7:c.1566-21T>A ENSP00000387123.3:n.1566-21T>A
ENST00000447989.6:c.1455-21T>A ENSP00000414132.2:n.1455-21T>A
ENST00000485852.6:n.313-21T>A
ENST00000497231.6:n.1776-21T>A
ENST00000553117.5:c.1374-21T>A ENSP00000448593.1:n.1374-21T>A
NM_001182.4:c.1566-21T>A NP_001173.2:n.1566-21T>A
NM_001201377.1:c.1482-21T>A NP_001188306.1:n.1482-21T>A
NM_001202404.1:c.1455-21T>A NP_001189333.1:n.1455-21T>A
XM_011543417.1:c.1161-21T>A XP_011541719.1:n.1161-21T>A
XM_011543417.2:c.1161-21T>A XP_011541719.1:n.1161-21T>A
NM_001182.5:c.1566-21T>A MANE Select NP_001173.2:n.1566-21T>A
NM_001201377.2:c.1482-21T>A NP_001188306.1:n.1482-21T>A
NM_001202404.2:c.1374-21T>A NP_001189333.2:n.1374-21T>A