Canonical Allele Identifier: CA136128330
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24504927G>A
GRCh37 chr6:g.24505155G>A
Revel Score:
ENST00000357578 (MANE Select) 0.806
ENST00000546278 0.806
ENST00000491546 0.806
ENST00000348925 0.806
gnomAD v4:
chr6-24504927-G-A
Joint Max Group AF 0.00000442 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000523906
RCV002509419
ClinVar Variation:
449409
dbSNP:
72552282
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24504927G>A , CM000668.2:g.24504927G>A GRCh38
NC_000006.11:g.24505155G>A , CM000668.1:g.24505155G>A GRCh37
NC_000006.10:g.24613134G>A NCBI36
NG_008161.1:g.14959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.668G>A MANE Select ENSP00000350191.3:p.Cys223Tyr
ENST00000672352.1:c.431G>A ENSP00000500876.1:p.Cys144Tyr
ENST00000672557.1:c.586G>A
ENST00000672619.1:n.28G>A
ENST00000672652.1:c.589G>A
ENST00000675422.1:n.1428G>A
ENST00000348925.2:c.668G>A ENSP00000314649.3:p.Cys223Tyr
ENST00000357578.7:c.668G>A ENSP00000350191.3:p.Cys223Tyr
ENST00000491546.5:c.584G>A ENSP00000417687.1:p.Cys195Tyr
NM_001080.3:c.668G>A MANE Select NP_001071.1:p.Cys223Tyr
NM_170740.1:c.668G>A NP_733936.1:p.Cys223Tyr
NM_001368954.1:c.668G>A NP_001355883.1:p.Cys223Tyr
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