Canonical Allele Identifier: CA3656923

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 356140
• ClinVar RCV Id: RCV000304780 ; RCV000503263 ; RCV001252142 ; RCV001706589
• dbSNP Id: rs368212282
• ExAC: 6:24532341 T / C
• gnomAD v2: 6-24532341-T-C
• gnomAD v3: 6-24532113-T-C
• gnomAD v4: 6-24532113-T-C
• MyVariant Identifiers: chr6:g.24532341T>C (hg19) ; chr6:g.24532113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24532113T>C , CM000668.2:g.24532113T>C	GRCh38
NC_000006.11:g.24532341T>C , CM000668.1:g.24532341T>C	GRCh37
NC_000006.10:g.24640320T>C	NCBI36
NG_008161.1:g.42145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1344-6T>C MANE Select	ENSP00000350191.3:n.1344-6T>C
ENST00000479394.2:n.459-6T>C
ENST00000672352.1:c.963-6T>C	ENSP00000500876.1:n.963-6T>C
ENST00000672652.1:c.1307-6T>C
ENST00000348925.2:c.1383-6T>C	ENSP00000314649.3:n.1383-6T>C
ENST00000357578.7:c.1344-6T>C	ENSP00000350191.3:n.1344-6T>C
ENST00000479394.1:n.459-6T>C
ENST00000491546.5:c.1260-6T>C	ENSP00000417687.1:n.1260-6T>C
ENST00000492697.1:n.104T>C
NM_001080.3:c.1344-6T>C MANE Select	NP_001071.1:n.1344-6T>C
NM_170740.1:c.1383-6T>C	NP_733936.1:n.1383-6T>C
NM_001368954.1:c.1200-6T>C	NP_001355883.1:n.1200-6T>C