Canonical Allele Identifier: CA3656599
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24502519G>C
GRCh37 chr6:g.24502747G>C
gnomAD v2:
6:24502747 G / C
gnomAD v3:
6:24502519 G / C
gnomAD v4:
chr6-24502519-G-C
Joint Max Group AF 0.00006941 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00007015 (NFE)
ClinVar RCV:
RCV000503063
RCV002060094
ClinVar Variation:
434120
dbSNP:
775932045
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24502519G>C , CM000668.2:g.24502519G>C GRCh38
NC_000006.11:g.24502747G>C , CM000668.1:g.24502747G>C GRCh37
NC_000006.10:g.24610726G>C NCBI36
NG_008161.1:g.12551G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.355-4G>C MANE Select ENSP00000350191.3:n.355-4G>C
ENST00000672352.1:c.118-4G>C ENSP00000500876.1:n.118-4G>C
ENST00000672557.1:c.116-4G>C
ENST00000672652.1:c.276-4G>C
ENST00000675422.1:n.1111G>C
ENST00000348925.2:c.355-4G>C ENSP00000314649.3:n.355-4G>C
ENST00000357578.7:c.355-4G>C ENSP00000350191.3:n.355-4G>C
ENST00000491546.5:c.355-744G>C ENSP00000417687.1:n.355-744G>C
NM_001080.3:c.355-4G>C MANE Select NP_001071.1:n.355-4G>C
NM_170740.1:c.355-4G>C NP_733936.1:n.355-4G>C
NM_001368954.1:c.355-4G>C NP_001355883.1:n.355-4G>C
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