Canonical Allele Identifier: CA3656899

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 579979
• ClinVar RCV Id: RCV000703396 ; RCV000729889 ; RCV001256157
• dbSNP Id: rs199500997
• ExAC: 6:24528359 T / G
• gnomAD v2: 6-24528359-T-G
• gnomAD v3: 6-24528131-T-G
• gnomAD v4: 6-24528131-T-G
• MyVariant Identifiers: chr6:g.24528359T>G (hg19) ; chr6:g.24528131T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1308T>G MANE Select	ENSP00000350191.3:p.His436Gln
ENST00000479394.2:n.423T>G
ENST00000672352.1:c.927T>G	ENSP00000500876.1:p.His309Gln
ENST00000672652.1:c.1271T>G
ENST00000348925.2:c.1347T>G	ENSP00000314649.3:p.His449Gln
ENST00000357578.7:c.1308T>G	ENSP00000350191.3:p.His436Gln
ENST00000479394.1:n.423T>G
ENST00000491546.5:c.1224T>G	ENSP00000417687.1:p.His408Gln
NM_001080.3:c.1308T>G MANE Select	NP_001071.1:p.His436Gln
NM_170740.1:c.1347T>G	NP_733936.1:p.His449Gln
NM_001368954.1:c.1164T>G	NP_001355883.1:p.His388Gln