Canonical Allele Identifier: CA3656980
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24533719T>C
GRCh37 chr6:g.24533947T>C
gnomAD v2:
6:24533947 T / C
gnomAD v3:
6:24533719 T / C
gnomAD v4:
chr6-24533719-T-C
Joint Max Group AF 0.00039071 (NFE)
Genomes Max Group AF 0.00032947 (NFE)
Exomes Max Group AF 0.00038857 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24533719T>C , CM000668.2:g.24533719T>C GRCh38
NC_000006.11:g.24533947T>C , CM000668.1:g.24533947T>C GRCh37
NC_000006.10:g.24641926T>C NCBI36
NG_008161.1:g.43751T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.*7T>C MANE Select ENSP00000350191.3:n.*7T>C
ENST00000479394.2:n.730T>C
ENST00000672352.1:c.1234T>C ENSP00000500876.1:n.1234T>C
ENST00000672652.1:c.1578T>C
ENST00000348925.2:c.*7T>C ENSP00000314649.3:n.*7T>C
ENST00000357578.7:c.*7T>C ENSP00000350191.3:n.*7T>C
ENST00000479394.1:n.730T>C
ENST00000491546.5:c.*7T>C ENSP00000417687.1:n.*7T>C
ENST00000492697.1:n.381T>C
NM_001080.3:c.*7T>C MANE Select NP_001071.1:n.*7T>C
NM_170740.1:c.*7T>C NP_733936.1:n.*7T>C
NM_001368954.1:c.*7T>C NP_001355883.1:n.*7T>C
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