Canonical Allele Identifier: CA647213

Gene: ALDH4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18881826C>A , CM000663.2:g.18881826C>A	GRCh38
NC_000001.10:g.19208320C>A , CM000663.1:g.19208320C>A	GRCh37
NC_000001.9:g.19080907C>A	NCBI36
NG_012283.1:g.25974G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003748.4:c.740G>T MANE Select	NP_003739.2:p.Arg247Leu
ENST00000375341.8:c.740G>T MANE Select	ENSP00000364490.3:p.Arg247Leu
NM_001161504.1:c.560G>T	NP_001154976.1:p.Arg187Leu
NM_001161504.2:c.560G>T	NP_001154976.1:p.Arg187Leu
NM_001319218.1:c.740G>T	NP_001306147.1:p.Arg247Leu
NM_001319218.2:c.740G>T	NP_001306147.1:p.Arg247Leu
NM_003748.3:c.740G>T	NP_003739.2:p.Arg247Leu
NM_170726.2:c.740G>T	NP_733844.1:p.Arg247Leu
NM_170726.3:c.740G>T	NP_733844.1:p.Arg247Leu
ENST00000290597.9:c.740G>T	ENSP00000290597.5:p.Arg247Leu
ENST00000375341.7:c.740G>T	ENSP00000364490.3:p.Arg247Leu
ENST00000494072.3:c.1792G>T
ENST00000538309.5:c.560G>T	ENSP00000442988.1:p.Arg187Leu
ENST00000538839.5:c.740G>T	ENSP00000446071.1:p.Arg247Leu
XM_011542352.1:c.740G>T	XP_011540654.1:p.Arg247Leu
XM_011542353.1:c.678+1298G>T	XP_011540655.1:n.678+1298G>T
XR_001737510.1:n.735+1298G>T
XR_946786.1:n.735+1298G>T