Canonical Allele Identifier: CA3656925
Gene: ALDH5A1 HGNC NCBI
COSMIC:
COSM5717312 (not active)
MyVariant.info:
GRCh38 chr6:g.24532123G>A
GRCh37 chr6:g.24532351G>A
Revel Score:
ENST00000357578 (MANE Select) 0.196
ENST00000546278 0.196
ENST00000491546 0.196
ENST00000348925 0.196
gnomAD v2:
6:24532351 G / A
gnomAD v3:
6:24532123 G / A
gnomAD v4:
chr6-24532123-G-A
Joint Max Group AF 0.00611564 (AFR)
Genomes Max Group AF 0.00622553 (AFR)
Exomes Max Group AF 0.00554892 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24532123G>A , CM000668.2:g.24532123G>A GRCh38
NC_000006.11:g.24532351G>A , CM000668.1:g.24532351G>A GRCh37
NC_000006.10:g.24640330G>A NCBI36
NG_008161.1:g.42155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1348G>A MANE Select ENSP00000350191.3:p.Asp450Asn
ENST00000479394.2:n.463G>A
ENST00000672352.1:c.967G>A ENSP00000500876.1:p.Asp323Asn
ENST00000672652.1:c.1311G>A
ENST00000348925.2:c.1387G>A ENSP00000314649.3:p.Asp463Asn
ENST00000357578.7:c.1348G>A ENSP00000350191.3:p.Asp450Asn
ENST00000479394.1:n.463G>A
ENST00000491546.5:c.1264G>A ENSP00000417687.1:p.Asp422Asn
ENST00000492697.1:n.114G>A
NM_001080.3:c.1348G>A MANE Select NP_001071.1:p.Asp450Asn
NM_170740.1:c.1387G>A NP_733936.1:p.Asp463Asn
NM_001368954.1:c.1204G>A NP_001355883.1:p.Asp402Asn
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