Canonical Allele Identifier: CA9574515

Gene: ALDH16A1

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
NM_153329.4:c.1580C>A MANE Select	NP_699160.2:p.Pro527His
ENST00000293350.9:c.1580C>A MANE Select	ENSP00000293350.3:p.Pro527His
NM_001145396.1:c.1427C>A	NP_001138868.1:p.Pro476His
NM_001145396.2:c.1427C>A	NP_001138868.1:p.Pro476His
NM_153329.3:c.1580C>A	NP_699160.2: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
XM_011526441.1:c.1493C>A	XP_011524743.1:p.Pro498His
XM_011526442.1:c.1493C>A	XP_011524744.1:p.Pro498His