Canonical Allele Identifier: CA565926603
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs4646836
gnomAD v2: 6-24503129-G-GT
gnomAD v3: 6-24502901-G-GT
gnomAD v4: 6-24502901-G-GT
MyVariant Identifiers: chr6:g.24503130_24503131insT (hg19) chr6:g.24503129_24503130insT (hg19) chr6:g.24502902_24502903insT (hg38) chr6:g.24502901_24502902insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24502912dup , CM000668.2:g.24502912dup GRCh38
NC_000006.11:g.24503140dup , CM000668.1:g.24503140dup GRCh37
NC_000006.10:g.24611119dup NCBI36
NG_008161.1:g.12944dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.438+306dup MANE Select ENSP00000350191.3:n.438+306dup
ENST00000672352.1:c.201+306dup ENSP00000500876.1:n.201+306dup
ENST00000672557.1:c.356+149dup
ENST00000672652.1:c.359+306dup
ENST00000675422.1:n.1198+306dup
ENST00000348925.2:c.438+306dup ENSP00000314649.3:n.438+306dup
ENST00000357578.7:c.438+306dup ENSP00000350191.3:n.438+306dup
ENST00000491546.5:c.355-351dup ENSP00000417687.1:n.355-351dup
NM_001080.3:c.438+306dup MANE Select NP_001071.1:n.438+306dup
NM_170740.1:c.438+306dup NP_733936.1:n.438+306dup
NM_001368954.1:c.438+306dup NP_001355883.1:n.438+306dup
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