Canonical Allele Identifier: CA3656586
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24495364G>A
GRCh37 chr6:g.24495592G>A
gnomAD v2:
6:24495592 G / A
gnomAD v3:
6:24495364 G / A
gnomAD v4:
chr6-24495364-G-A
Joint Max Group AF 0.00320666 (MID)
Genomes Max Group AF 0.00130387 (NFE)
Exomes Max Group AF 0.00323754 (MID)
ClinVar RCV:
RCV000271361
RCV000360471
ClinVar Variation:
286878
dbSNP:
572861590
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495364G>A , CM000668.2:g.24495364G>A GRCh38
NC_000006.11:g.24495592G>A , CM000668.1:g.24495592G>A GRCh37
NC_000006.10:g.24603571G>A NCBI36
NG_008161.1:g.5396G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.354+14G>A MANE Select ENSP00000350191.3:n.354+14G>A
ENST00000672352.1:c.117+14G>A ENSP00000500876.1:n.117+14G>A
ENST00000672557.1:c.115+14G>A
ENST00000672652.1:c.275+14G>A
ENST00000348925.2:c.354+14G>A ENSP00000314649.3:n.354+14G>A
ENST00000357578.7:c.354+14G>A ENSP00000350191.3:n.354+14G>A
ENST00000491546.5:c.354+14G>A ENSP00000417687.1:n.354+14G>A
NM_001080.3:c.354+14G>A MANE Select NP_001071.1:n.354+14G>A
NM_170740.1:c.354+14G>A NP_733936.1:n.354+14G>A
NM_001368954.1:c.354+14G>A NP_001355883.1:n.354+14G>A
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