Canonical Allele Identifier: CA3656550
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24495009A>G
GRCh37 chr6:g.24495237A>G
Revel Score:
ENST00000357578 (MANE Select) 0.096
ENST00000491546 0.096
ENST00000348925 0.096
gnomAD v2:
6:24495237 A / G
gnomAD v3:
6:24495009 A / G
gnomAD v4:
chr6-24495009-A-G
Joint Max Group AF 0.00263734 (AFR)
Genomes Max Group AF 0.00261887 (AFR)
Exomes Max Group AF 0.00231915 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495009A>G , CM000668.2:g.24495009A>G GRCh38
NC_000006.11:g.24495237A>G , CM000668.1:g.24495237A>G GRCh37
NC_000006.10:g.24603216A>G NCBI36
NG_008161.1:g.5041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.13A>G (ALDH5A1) MANE Select ENSP00000350191.3:p.Ile5Val
ENST00000348925.2:c.13A>G (ALDH5A1) ENSP00000314649.3:p.Ile5Val
ENST00000357578.7:c.13A>G (ALDH5A1) ENSP00000350191.3:p.Ile5Val
ENST00000474784.5:n.197T>C (GPLD1)
ENST00000475417.1:n.191T>C (GPLD1)
ENST00000491546.5:c.13A>G (ALDH5A1) ENSP00000417687.1:p.Ile5Val
NM_001080.3:c.13A>G (ALDH5A1) MANE Select NP_001071.1:p.Ile5Val
NM_170740.1:c.13A>G (ALDH5A1) NP_733936.1:p.Ile5Val
XM_011514509.1:c.2T>C (GPLD1) XP_011512811.1:p.Met1Thr
XM_017010753.2:c.2T>C (GPLD1) XP_016866242.1:p.Met1Thr
XR_002956277.1:n.224T>C (GPLD1)
NM_001368954.1:c.13A>G (ALDH5A1) NP_001355883.1:p.Ile5Val
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