Canonical Allele Identifier: CA10604884
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24495119G>A
GRCh37 chr6:g.24495347G>A
gnomAD v3:
6:24495119 G / A
gnomAD v4:
chr6-24495119-G-A
Joint Max Group AF 0.00007836 (NFE)
Exomes Max Group AF 0.00008278 (NFE)
ClinVar Allele:
268955
ClinVar RCV:
RCV000289497
RCV000818576
ClinVar Variation:
284718
dbSNP:
886042931
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495119G>A , CM000668.2:g.24495119G>A GRCh38
NC_000006.11:g.24495347G>A , CM000668.1:g.24495347G>A GRCh37
NC_000006.10:g.24603326G>A NCBI36
NG_008161.1:g.5151G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.123G>A (ALDH5A1) MANE Select ENSP00000350191.3:p.Pro41=
ENST00000672652.1:c.44G>A (ALDH5A1)
ENST00000348925.2:c.123G>A (ALDH5A1) ENSP00000314649.3:p.Pro41=
ENST00000357578.7:c.123G>A (ALDH5A1) ENSP00000350191.3:p.Pro41=
ENST00000474784.5:n.87C>T (GPLD1)
ENST00000475417.1:n.81C>T (GPLD1)
ENST00000491546.5:c.123G>A (ALDH5A1) ENSP00000417687.1:p.Pro41=
NM_001080.3:c.123G>A (ALDH5A1) MANE Select NP_001071.1:p.Pro41=
NM_170740.1:c.123G>A (ALDH5A1) NP_733936.1:p.Pro41=
XM_017010753.2:c.-109C>T (GPLD1) XP_016866242.1:n.-109C>T
XR_002956277.1:n.114C>T (GPLD1)
NM_001368954.1:c.123G>A (ALDH5A1) NP_001355883.1:p.Pro41=
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Search 100 bp 3'