Canonical Allele Identifier: CA151744
Gene: ALDH5A1 HGNC NCBI
ClinVar RCV:
RCV000116307
RCV000375656
RCV001711276
ClinVar Variation:
128343
COSMIC:
COSM4003827
dbSNP:
2760118
gnomAD v2:
6:24503590 C / T
gnomAD v3:
6:24503362 C / T
gnomAD v4:
chr6-24503362-C-T
Joint Max Group AF 0.44337899 (AFR)
Genomes Max Group AF 0.44151704 (AFR)
Exomes Max Group AF 0.44199236 (AFR)
MyVariant.info:
GRCh38 chr6:g.24503362C>T
GRCh37 chr6:g.24503590C>T
Revel Score:
ENST00000357578 (MANE Select) 0.125
ENST00000546278 0.125
ENST00000491546 0.125
ENST00000348925 0.125
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503362C>T , CM000668.2:g.24503362C>T GRCh38
NC_000006.11:g.24503590C>T , CM000668.1:g.24503590C>T GRCh37
NC_000006.10:g.24611569C>T NCBI36
NG_008161.1:g.13394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.538C>T MANE Select ENSP00000350191.3:p.His180Tyr
ENST00000672352.1:c.301C>T ENSP00000500876.1:p.His101Tyr
ENST00000672557.1:c.456C>T
ENST00000672652.1:c.459C>T
ENST00000675422.1:n.1298C>T
ENST00000348925.2:c.538C>T ENSP00000314649.3:p.His180Tyr
ENST00000357578.7:c.538C>T ENSP00000350191.3:p.His180Tyr
ENST00000491546.5:c.454C>T ENSP00000417687.1:p.His152Tyr
NM_001080.3:c.538C>T MANE Select NP_001071.1:p.His180Tyr
NM_170740.1:c.538C>T NP_733936.1:p.His180Tyr
NM_001368954.1:c.538C>T NP_001355883.1:p.His180Tyr
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