Canonical Allele Identifier: CA3656958
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24533582A>G
GRCh37 chr6:g.24533810A>G
Revel Score:
ENST00000357578 (MANE Select) 0.871
ENST00000546278 0.871
ENST00000491546 0.871
ENST00000348925 0.871
gnomAD v2:
6:24533810 A / G
gnomAD v4:
chr6-24533582-A-G
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
ClinVar RCV:
RCV000634939
ClinVar Variation:
529487
dbSNP:
776978579
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24533582A>G , CM000668.2:g.24533582A>G GRCh38
NC_000006.11:g.24533810A>G , CM000668.1:g.24533810A>G GRCh37
NC_000006.10:g.24641789A>G NCBI36
NG_008161.1:g.43614A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1478A>G MANE Select ENSP00000350191.3:p.Asn493Ser
ENST00000479394.2:n.593A>G
ENST00000672352.1:c.1097A>G ENSP00000500876.1:p.Asn366Ser
ENST00000672652.1:c.1441A>G
ENST00000348925.2:c.1517A>G ENSP00000314649.3:p.Asn506Ser
ENST00000357578.7:c.1478A>G ENSP00000350191.3:p.Asn493Ser
ENST00000479394.1:n.593A>G
ENST00000491546.5:c.1394A>G ENSP00000417687.1:p.Asn465Ser
ENST00000492697.1:n.244A>G
NM_001080.3:c.1478A>G MANE Select NP_001071.1:p.Asn493Ser
NM_170740.1:c.1517A>G NP_733936.1:p.Asn506Ser
NM_001368954.1:c.1334A>G NP_001355883.1:p.Asn445Ser
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