Canonical Allele Identifier: CA647339
Gene: ALDH4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18883392C>G , CM000663.2:g.18883392C>G GRCh38
NC_000001.10:g.19209886C>G , CM000663.1:g.19209886C>G GRCh37
NC_000001.9:g.19082473C>G NCBI36
NG_012283.1:g.24408G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.490G>C MANE Select ENSP00000364490.3:p.Ala164Pro
ENST00000290597.9:c.490G>C ENSP00000290597.5:p.Ala164Pro
ENST00000375341.7:c.490G>C ENSP00000364490.3:p.Ala164Pro
ENST00000432718.1:c.442G>C ENSP00000393209.1:p.Ala148Pro
ENST00000454547.1:n.184G>C
ENST00000494072.3:c.1542G>C
ENST00000538309.5:c.310G>C ENSP00000442988.1:p.Ala104Pro
ENST00000538839.5:c.490G>C ENSP00000446071.1:p.Ala164Pro
NM_001161504.1:c.310G>C NP_001154976.1:p.Ala104Pro
NM_003748.3:c.490G>C NP_003739.2:p.Ala164Pro
NM_170726.2:c.490G>C NP_733844.1:p.Ala164Pro
XM_011542352.1:c.490G>C XP_011540654.1:p.Ala164Pro
XM_011542353.1:c.490G>C XP_011540655.1:p.Ala164Pro
XR_946786.1:n.547G>C
NM_001319218.1:c.490G>C NP_001306147.1:p.Ala164Pro
XR_001737510.1:n.547G>C
NM_003748.4:c.490G>C MANE Select NP_003739.2:p.Ala164Pro
NM_170726.3:c.490G>C NP_733844.1:p.Ala164Pro
NM_001161504.2:c.310G>C NP_001154976.1:p.Ala104Pro
NM_001319218.2:c.490G>C NP_001306147.1:p.Ala164Pro