Canonical Allele Identifier: CA362969979
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24504871G>C
GRCh37 chr6:g.24505099G>C
Revel Score:
ENST00000357578 (MANE Select) 0.862
ENST00000546278 0.862
ENST00000491546 0.862
ENST00000348925 0.862
gnomAD v4:
chr6-24504871-G-C
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24504871G>C , CM000668.2:g.24504871G>C GRCh38
NC_000006.11:g.24505099G>C , CM000668.1:g.24505099G>C GRCh37
NC_000006.10:g.24613078G>C NCBI36
NG_008161.1:g.14903G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.612G>C MANE Select ENSP00000350191.3:p.Trp204Cys
ENST00000672352.1:c.375G>C ENSP00000500876.1:p.Trp125Cys
ENST00000672557.1:c.530G>C
ENST00000672652.1:c.533G>C
ENST00000675422.1:n.1372G>C
ENST00000348925.2:c.612G>C ENSP00000314649.3:p.Trp204Cys
ENST00000357578.7:c.612G>C ENSP00000350191.3:p.Trp204Cys
ENST00000491546.5:c.528G>C ENSP00000417687.1:p.Trp176Cys
NM_001080.3:c.612G>C MANE Select NP_001071.1:p.Trp204Cys
NM_170740.1:c.612G>C NP_733936.1:p.Trp204Cys
NM_001368954.1:c.612G>C NP_001355883.1:p.Trp204Cys
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