Canonical Allele Identifier: CA251757
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24504871G>A
GRCh37 chr6:g.24505099G>A
gnomAD v2:
6:24505099 G / A
gnomAD v3:
6:24504871 G / A
gnomAD v4:
chr6-24504871-G-A
Joint Max Group AF 0.00028835 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00029871 (NFE)
ClinVar Allele:
16396
ClinVar RCV:
RCV000001422
RCV000224440
ClinVar Variation:
1357
dbSNP:
118203982
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24504871G>A , CM000668.2:g.24504871G>A GRCh38
NC_000006.11:g.24505099G>A , CM000668.1:g.24505099G>A GRCh37
NC_000006.10:g.24613078G>A NCBI36
NG_008161.1:g.14903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.612G>A MANE Select ENSP00000350191.3:p.Trp204Ter
ENST00000672352.1:c.375G>A ENSP00000500876.1:p.Trp125Ter
ENST00000672557.1:c.530G>A
ENST00000672652.1:c.533G>A
ENST00000675422.1:n.1372G>A
ENST00000348925.2:c.612G>A ENSP00000314649.3:p.Trp204Ter
ENST00000357578.7:c.612G>A ENSP00000350191.3:p.Trp204Ter
ENST00000491546.5:c.528G>A ENSP00000417687.1:p.Trp176Ter
NM_001080.3:c.612G>A MANE Select NP_001071.1:p.Trp204Ter
NM_170740.1:c.612G>A NP_733936.1:p.Trp204Ter
NM_001368954.1:c.612G>A NP_001355883.1:p.Trp204Ter
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