Canonical Allele Identifier: CA3656663
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24503413G>A
GRCh37 chr6:g.24503641G>A
Revel Score:
ENST00000357578 (MANE Select) 0.940
ENST00000546278 0.940
ENST00000491546 0.940
ENST00000348925 0.940
gnomAD v2:
6:24503641 G / A
gnomAD v3:
6:24503413 G / A
gnomAD v4:
chr6-24503413-G-A
Joint Max Group AF 0.00022392 (MID)
Genomes Max Group AF 0.00001918 (AFR)
Exomes Max Group AF 0.00023619 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503413G>A , CM000668.2:g.24503413G>A GRCh38
NC_000006.11:g.24503641G>A , CM000668.1:g.24503641G>A GRCh37
NC_000006.10:g.24611620G>A NCBI36
NG_008161.1:g.13445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.589G>A MANE Select ENSP00000350191.3:p.Val197Met
ENST00000672352.1:c.352G>A ENSP00000500876.1:p.Val118Met
ENST00000672557.1:c.507G>A
ENST00000672652.1:c.510G>A
ENST00000675422.1:n.1349G>A
ENST00000348925.2:c.589G>A ENSP00000314649.3:p.Val197Met
ENST00000357578.7:c.589G>A ENSP00000350191.3:p.Val197Met
ENST00000491546.5:c.505G>A ENSP00000417687.1:p.Val169Met
NM_001080.3:c.589G>A MANE Select NP_001071.1:p.Val197Met
NM_170740.1:c.589G>A NP_733936.1:p.Val197Met
NM_001368954.1:c.589G>A NP_001355883.1:p.Val197Met
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