Canonical Allele Identifier: CA647452

Gene: ALDH4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18889383C>T , CM000663.2:g.18889383C>T	GRCh38
NC_000001.10:g.19215877C>T , CM000663.1:g.19215877C>T	GRCh37
NC_000001.9:g.19088464C>T	NCBI36
NG_012283.1:g.18417G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003748.4:c.228G>A MANE Select	NP_003739.2:p.Ser76=
ENST00000375341.8:c.228G>A MANE Select	ENSP00000364490.3:p.Ser76=
NM_001161504.1:c.48G>A	NP_001154976.1:p.Ser16=
NM_001161504.2:c.48G>A	NP_001154976.1:p.Ser16=
NM_001319218.1:c.228G>A	NP_001306147.1:p.Ser76=
NM_001319218.2:c.228G>A	NP_001306147.1:p.Ser76=
NM_003748.3:c.228G>A	NP_003739.2:p.Ser76=
NM_170726.2:c.228G>A	NP_733844.1:p.Ser76=
NM_170726.3:c.228G>A	NP_733844.1:p.Ser76=
ENST00000290597.9:c.228G>A	ENSP00000290597.5:p.Ser76=
ENST00000375341.7:c.228G>A	ENSP00000364490.3:p.Ser76=
ENST00000432718.1:c.228G>A	ENSP00000393209.1:p.Ser76=
ENST00000494072.3:c.1165G>A
ENST00000538309.5:c.48G>A	ENSP00000442988.1:p.Ser16=
ENST00000538839.5:c.228G>A	ENSP00000446071.1:p.Ser76=
XM_011542352.1:c.228G>A	XP_011540654.1:p.Ser76=
XM_011542353.1:c.228G>A	XP_011540655.1:p.Ser76=
XR_001737510.1:n.285G>A
XR_946786.1:n.285G>A