Canonical Allele Identifier: CA3389357
Gene: ALDH7A1 HGNC NCBI

Linked Data

dbSNP Id: rs774031631

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126545056T>C , CM000667.2:g.126545056T>C GRCh38
NC_000005.9:g.125880748T>C , CM000667.1:g.125880748T>C GRCh37
NC_000005.8:g.125908647T>C NCBI36
NG_008600.2:g.55335A>G
NG_008600.3:g.55335A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.1566-37A>G MANE Select ENSP00000387123.3:n.1566-37A>G
ENST00000458249.6:c.*1475-37A>G ENSP00000403929.1:n.*1475-37A>G
ENST00000485852.7:n.313-37A>G
ENST00000497231.7:n.1993-37A>G
ENST00000635851.1:c.1563+1268A>G
ENST00000636286.1:n.1331-37A>G
ENST00000636482.1:n.1100-37A>G
ENST00000636743.1:c.1446-37A>G ENSP00000489725.1:n.1446-37A>G
ENST00000636808.1:c.*1375-37A>G ENSP00000490833.1:n.*1375-37A>G
ENST00000636872.1:c.1726-37A>G ENSP00000490919.1:n.1726-37A>G
ENST00000636879.1:c.1611-37A>G ENSP00000490811.1:n.1611-37A>G
ENST00000636886.1:c.1365-37A>G ENSP00000490371.1:n.1365-37A>G
ENST00000637206.1:c.1386-37A>G ENSP00000489895.1:n.1386-37A>G
ENST00000637272.1:c.1557-37A>G ENSP00000489686.1:n.1557-37A>G
ENST00000637292.1:c.1022-37A>G
ENST00000637782.1:c.1565+1268A>G ENSP00000490024.1:n.1565+1268A>G
ENST00000638008.1:c.*1410-37A>G ENSP00000490400.1:n.*1410-37A>G
ENST00000638010.1:n.1512-37A>G
ENST00000409134.7:c.1566-37A>G ENSP00000387123.3:n.1566-37A>G
ENST00000447989.6:c.1455-37A>G ENSP00000414132.2:n.1455-37A>G
ENST00000485852.6:n.313-37A>G
ENST00000497231.6:n.1776-37A>G
ENST00000553117.5:c.1374-37A>G ENSP00000448593.1:n.1374-37A>G
NM_001182.4:c.1566-37A>G NP_001173.2:n.1566-37A>G
NM_001201377.1:c.1482-37A>G NP_001188306.1:n.1482-37A>G
NM_001202404.1:c.1455-37A>G NP_001189333.1:n.1455-37A>G
XM_011543417.1:c.1161-37A>G XP_011541719.1:n.1161-37A>G
XM_011543417.2:c.1161-37A>G XP_011541719.1:n.1161-37A>G
NM_001182.5:c.1566-37A>G MANE Select NP_001173.2:n.1566-37A>G
NM_001201377.2:c.1482-37A>G NP_001188306.1:n.1482-37A>G
NM_001202404.2:c.1374-37A>G NP_001189333.2:n.1374-37A>G