Canonical Allele Identifier: CA16611664
Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410540
ClinVar RCV Id: RCV000468096 RCV001266223
dbSNP Id: rs1060502949
MyVariant Identifiers: chr5:g.125928422C>G (hg19) chr5:g.126592730C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126592730C>G , CM000667.2:g.126592730C>G GRCh38
NC_000005.9:g.125928422C>G , CM000667.1:g.125928422C>G GRCh37
NC_000005.8:g.125956321C>G NCBI36
NG_008600.2:g.7661G>C
NG_008600.3:g.7661G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409134.8:c.247-1G>C MANE Select ENSP00000387123.3:n.247-1G>C
ENST00000412186.2:c.247-1G>C ENSP00000414536.2:n.247-1G>C
ENST00000413020.6:c.247-1G>C ENSP00000487936.1:n.247-1G>C
ENST00000458249.6:c.*156-1G>C ENSP00000403929.1:n.*156-1G>C
ENST00000479989.6:n.430-1G>C
ENST00000503281.6:c.106+2277G>C
ENST00000509270.2:c.246+621G>C ENSP00000449318.2:n.246+621G>C
ENST00000509459.6:c.65+2277G>C
ENST00000511266.6:n.969-1G>C
ENST00000635851.1:c.245-1G>C
ENST00000635858.1:n.86-1G>C
ENST00000635933.1:n.276-1G>C
ENST00000636062.1:n.142-1G>C
ENST00000636190.1:n.126-1G>C
ENST00000636225.1:c.*56-1G>C ENSP00000490797.1:n.*56-1G>C
ENST00000636743.1:c.192+2277G>C ENSP00000489725.1:n.192+2277G>C
ENST00000636808.1:c.*56-1G>C ENSP00000490833.1:n.*56-1G>C
ENST00000636872.1:c.407-1G>C ENSP00000490919.1:n.407-1G>C
ENST00000636879.1:c.247-1G>C ENSP00000490811.1:n.247-1G>C
ENST00000636886.1:c.192+2277G>C ENSP00000490371.1:n.192+2277G>C
ENST00000637206.1:c.247-1G>C ENSP00000489895.1:n.247-1G>C
ENST00000637272.1:c.247-1G>C ENSP00000489686.1:n.247-1G>C
ENST00000637782.1:c.247-1G>C ENSP00000490024.1:n.247-1G>C
ENST00000637964.1:c.193-1G>C ENSP00000490291.1:n.193-1G>C
ENST00000638008.1:c.*56-1G>C ENSP00000490400.1:n.*56-1G>C
ENST00000409134.7:c.247-1G>C ENSP00000387123.3:n.247-1G>C
ENST00000412186.1:c.*56-1G>C ENSP00000414536.1:n.*56-1G>C
ENST00000413020.5:c.247-1G>C ENSP00000487936.1:n.247-1G>C
ENST00000447989.6:c.328-1G>C ENSP00000414132.2:n.328-1G>C
ENST00000458249.5:c.407-1G>C ENSP00000403929.1:n.407-1G>C
ENST00000479989.5:n.430-1G>C
ENST00000503281.5:c.106+2277G>C
ENST00000509270.1:c.192+2277G>C ENSP00000449318.1:n.192+2277G>C
ENST00000509459.5:c.65+2277G>C
ENST00000510111.6:c.241-1G>C ENSP00000447388.1:n.241-1G>C
ENST00000511266.5:n.202-1G>C
ENST00000553117.5:c.247-1G>C ENSP00000448593.1:n.247-1G>C
NM_001182.4:c.247-1G>C NP_001173.2:n.247-1G>C
NM_001201377.1:c.163-1G>C NP_001188306.1:n.163-1G>C
NM_001202404.1:c.328-1G>C NP_001189333.1:n.328-1G>C
XM_011543417.1:c.-159-1G>C XP_011541719.1:n.-159-1G>C
XM_011543417.2:c.-159-1G>C XP_011541719.1:n.-159-1G>C
NM_001182.5:c.247-1G>C MANE Select NP_001173.2:n.247-1G>C
NM_001201377.2:c.163-1G>C NP_001188306.1:n.163-1G>C
NM_001202404.2:c.247-1G>C NP_001189333.2:n.247-1G>C
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