Canonical Allele Identifier: CA3656661
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24503412C>T
GRCh37 chr6:g.24503640C>T
gnomAD v2:
6:24503640 C / T
gnomAD v3:
6:24503412 C / T
gnomAD v4:
chr6-24503412-C-T
Joint Max Group AF 0.00022393 (NFE)
Genomes Max Group AF 0.00017006 (AMR)
Exomes Max Group AF 0.00023228 (NFE)
ClinVar RCV:
RCV000390571
RCV001081110
ClinVar Variation:
289419
dbSNP:
145208127
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503412C>T , CM000668.2:g.24503412C>T GRCh38
NC_000006.11:g.24503640C>T , CM000668.1:g.24503640C>T GRCh37
NC_000006.10:g.24611619C>T NCBI36
NG_008161.1:g.13444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.588C>T MANE Select ENSP00000350191.3:p.Gly196=
ENST00000672352.1:c.351C>T ENSP00000500876.1:p.Gly117=
ENST00000672557.1:c.506C>T
ENST00000672652.1:c.509C>T
ENST00000675422.1:n.1348C>T
ENST00000348925.2:c.588C>T ENSP00000314649.3:p.Gly196=
ENST00000357578.7:c.588C>T ENSP00000350191.3:p.Gly196=
ENST00000491546.5:c.504C>T ENSP00000417687.1:p.Gly168=
NM_001080.3:c.588C>T MANE Select NP_001071.1:p.Gly196=
NM_170740.1:c.588C>T NP_733936.1:p.Gly196=
NM_001368954.1:c.588C>T NP_001355883.1:p.Gly196=
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