Canonical Allele Identifier: CA136139434
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1581075
ClinVar RCV Id: RCV002086110
dbSNP Id: rs199500997
gnomAD v2: 6-24528359-T-C
gnomAD v3: 6-24528131-T-C
gnomAD v4: 6-24528131-T-C
MyVariant Identifiers: chr6:g.24528359T>C (hg19) chr6:g.24528131T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528131T>C , CM000668.2:g.24528131T>C GRCh38
NC_000006.11:g.24528359T>C , CM000668.1:g.24528359T>C GRCh37
NC_000006.10:g.24636338T>C NCBI36
NG_008161.1:g.38163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1308T>C MANE Select ENSP00000350191.3:p.His436=
ENST00000479394.2:n.423T>C
ENST00000672352.1:c.927T>C ENSP00000500876.1:p.His309=
ENST00000672652.1:c.1271T>C
ENST00000348925.2:c.1347T>C ENSP00000314649.3:p.His449=
ENST00000357578.7:c.1308T>C ENSP00000350191.3:p.His436=
ENST00000479394.1:n.423T>C
ENST00000491546.5:c.1224T>C ENSP00000417687.1:p.His408=
NM_001080.3:c.1308T>C MANE Select NP_001071.1:p.His436=
NM_170740.1:c.1347T>C NP_733936.1:p.His449=
NM_001368954.1:c.1164T>C NP_001355883.1:p.His388=
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