Canonical Allele Identifier: CA9574515
Gene: ALDH16A1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49465749C>A
GRCh37 chr19:g.49969006C>A
Revel Score:
ENST00000293350 (MANE Select) 0.177
ENST00000455361 0.177
ENST00000540132 0.177
ENST00000433981 0.177
gnomAD v2:
19:49969006 C / A
gnomAD v3:
19:49465749 C / A
gnomAD v4:
chr19-49465749-C-A
Joint Max Group AF 0.00004284 (AMR)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00005807 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49465749C>A , CM000681.2:g.49465749C>A GRCh38
NC_000019.9:g.49969006C>A , CM000681.1:g.49969006C>A GRCh37
NC_000019.8:g.54660818C>A NCBI36
NG_012747.1:g.17534C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293350.9:c.1580C>A MANE Select ENSP00000293350.3:p.Pro527His
ENST00000293350.8:c.1580C>A ENSP00000293350.3:p.Pro527His
ENST00000455361.6:c.1427C>A ENSP00000410142.1:p.Pro476His
ENST00000540132.5:c.1091C>A ENSP00000445088.1:p.Pro364His
ENST00000593417.5:c.*1038C>A ENSP00000470160.1:n.*1038C>A
ENST00000599536.1:c.337+987C>A
ENST00000599652.5:n.1758-32C>A
ENST00000600265.1:c.227C>A ENSP00000469507.1:p.Pro76His
NM_001145396.1:c.1427C>A NP_001138868.1:p.Pro476His
NM_153329.3:c.1580C>A NP_699160.2:p.Pro527His
XM_011526441.1:c.1493C>A XP_011524743.1:p.Pro498His
XM_011526442.1:c.1493C>A XP_011524744.1:p.Pro498His
NM_153329.4:c.1580C>A MANE Select NP_699160.2:p.Pro527His
NM_001145396.2:c.1427C>A NP_001138868.1:p.Pro476His
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