Canonical Allele Identifier: CA3656641
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24503339G>A
GRCh37 chr6:g.24503567G>A
Revel Score:
ENST00000357578 (MANE Select) 0.746
ENST00000546278 0.746
ENST00000491546 0.746
ENST00000348925 0.746
gnomAD v2:
6:24503567 G / A
gnomAD v3:
6:24503339 G / A
gnomAD v4:
chr6-24503339-G-A
Joint Max Group AF 0.00024068 (EAS)
Exomes Max Group AF 0.00025244 (EAS)
ClinVar RCV:
RCV000321024
ClinVar Variation:
356130
dbSNP:
773814880
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503339G>A , CM000668.2:g.24503339G>A GRCh38
NC_000006.11:g.24503567G>A , CM000668.1:g.24503567G>A GRCh37
NC_000006.10:g.24611546G>A NCBI36
NG_008161.1:g.13371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.515G>A MANE Select ENSP00000350191.3:p.Arg172His
ENST00000672352.1:c.278G>A ENSP00000500876.1:p.Arg93His
ENST00000672557.1:c.433G>A
ENST00000672652.1:c.436G>A
ENST00000675422.1:n.1275G>A
ENST00000348925.2:c.515G>A ENSP00000314649.3:p.Arg172His
ENST00000357578.7:c.515G>A ENSP00000350191.3:p.Arg172His
ENST00000491546.5:c.431G>A ENSP00000417687.1:p.Arg144His
NM_001080.3:c.515G>A MANE Select NP_001071.1:p.Arg172His
NM_170740.1:c.515G>A NP_733936.1:p.Arg172His
NM_001368954.1:c.515G>A NP_001355883.1:p.Arg172His
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