Canonical Allele Identifier: CA647473
Community Standard Title: NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
Gene: ALDH4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18890018C>T , CM000663.2:g.18890018C>T GRCh38
NC_000001.10:g.19216512C>T , CM000663.1:g.19216512C>T GRCh37
NC_000001.9:g.19089099C>T NCBI36
NG_012283.1:g.17782G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003748.4:c.150G>A MANE Select NP_003739.2:p.Leu50=
ENST00000375341.8:c.150G>A MANE Select ENSP00000364490.3:p.Leu50=
NM_001161504.1:c.-31G>A NP_001154976.1:n.-31G>A
NM_001161504.2:c.-31G>A NP_001154976.1:n.-31G>A
NM_001319218.1:c.150G>A NP_001306147.1:p.Leu50=
NM_001319218.2:c.150G>A NP_001306147.1:p.Leu50=
NM_003748.3:c.150G>A NP_003739.2:p.Leu50=
NM_170726.2:c.150G>A NP_733844.1:p.Leu50=
NM_170726.3:c.150G>A NP_733844.1:p.Leu50=
ENST00000290597.9:c.150G>A ENSP00000290597.5:p.Leu50=
ENST00000375341.7:c.150G>A ENSP00000364490.3:p.Leu50=
ENST00000432718.1:c.150G>A ENSP00000393209.1:p.Leu50=
ENST00000494072.3:c.1087G>A
ENST00000538309.5:c.-31G>A ENSP00000442988.1:n.-31G>A
ENST00000538839.5:c.150G>A ENSP00000446071.1:p.Leu50=
XM_011542352.1:c.150G>A XP_011540654.1:p.Leu50=
XM_011542353.1:c.150G>A XP_011540655.1:p.Leu50=
XR_001737510.1:n.207G>A
XR_946786.1:n.207G>A