Canonical Allele Identifier: CA136122190
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24495184G>T
GRCh37 chr6:g.24495412G>T
Revel Score:
ENST00000357578 (MANE Select) 0.546
ENST00000491546 0.546
ENST00000348925 0.546
gnomAD v2:
6:24495412 G / T
gnomAD v3:
6:24495184 G / T
gnomAD v4:
chr6-24495184-G-T
Joint Max Group AF 0.00042195 (EAS)
Genomes Max Group AF 0.00105518 (EAS)
Exomes Max Group AF 0.00023922 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495184G>T , CM000668.2:g.24495184G>T GRCh38
NC_000006.11:g.24495412G>T , CM000668.1:g.24495412G>T GRCh37
NC_000006.10:g.24603391G>T NCBI36
NG_008161.1:g.5216G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.188G>T (ALDH5A1) MANE Select ENSP00000350191.3:p.Ser63Ile
ENST00000672652.1:c.109G>T (ALDH5A1)
ENST00000348925.2:c.188G>T (ALDH5A1) ENSP00000314649.3:p.Ser63Ile
ENST00000357578.7:c.188G>T (ALDH5A1) ENSP00000350191.3:p.Ser63Ile
ENST00000474784.5:n.22C>A (GPLD1)
ENST00000475417.1:n.16C>A (GPLD1)
ENST00000491546.5:c.188G>T (ALDH5A1) ENSP00000417687.1:p.Ser63Ile
NM_001080.3:c.188G>T (ALDH5A1) MANE Select NP_001071.1:p.Ser63Ile
NM_170740.1:c.188G>T (ALDH5A1) NP_733936.1:p.Ser63Ile
XM_017010753.2:c.-174C>A (GPLD1) XP_016866242.1:n.-174C>A
XR_002956277.1:n.49C>A (GPLD1)
NM_001368954.1:c.188G>T (ALDH5A1) NP_001355883.1:p.Ser63Ile
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