Canonical Allele Identifier: CA3656805
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24520491G>A
GRCh37 chr6:g.24520719G>A
Revel Score:
ENST00000357578 (MANE Select) 0.421
ENST00000546278 0.421
ENST00000491546 0.421
ENST00000348925 0.421
gnomAD v2:
6:24520719 G / A
gnomAD v3:
6:24520491 G / A
gnomAD v4:
chr6-24520491-G-A
Joint Max Group AF 0.00551295 (NFE)
Genomes Max Group AF 0.00527719 (NFE)
Exomes Max Group AF 0.00550147 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24520491G>A , CM000668.2:g.24520491G>A GRCh38
NC_000006.11:g.24520719G>A , CM000668.1:g.24520719G>A GRCh37
NC_000006.10:g.24628698G>A NCBI36
NG_008161.1:g.30523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.961G>A MANE Select ENSP00000350191.3:p.Val321Met
ENST00000672352.1:c.580G>A ENSP00000500876.1:p.Val194Met
ENST00000672619.1:n.321G>A
ENST00000672652.1:c.924G>A
ENST00000348925.2:c.1000G>A ENSP00000314649.3:p.Val334Met
ENST00000357578.7:c.961G>A ENSP00000350191.3:p.Val321Met
ENST00000491546.5:c.877G>A ENSP00000417687.1:p.Val293Met
NM_001080.3:c.961G>A MANE Select NP_001071.1:p.Val321Met
NM_170740.1:c.1000G>A NP_733936.1:p.Val334Met
NM_001368954.1:c.817G>A NP_001355883.1:p.Val273Met
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