Canonical Allele Identifier: CA338750512

Gene: ALDH4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18877457C>G , CM000663.2:g.18877457C>G	GRCh38
NC_000001.10:g.19203951C>G , CM000663.1:g.19203951C>G	GRCh37
NC_000001.9:g.19076538C>G	NCBI36
NG_012283.1:g.30343G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003748.4:c.1096G>C MANE Select	NP_003739.2:p.Gly366Arg
ENST00000375341.8:c.1096G>C MANE Select	ENSP00000364490.3:p.Gly366Arg
NM_001161504.1:c.916G>C	NP_001154976.1:p.Gly306Arg
NM_001161504.2:c.916G>C	NP_001154976.1:p.Gly306Arg
NM_001319218.1:c.1096G>C	NP_001306147.1:p.Gly366Arg
NM_001319218.2:c.1096G>C	NP_001306147.1:p.Gly366Arg
NM_003748.3:c.1096G>C	NP_003739.2:p.Gly366Arg
NM_170726.2:c.1096G>C	NP_733844.1:p.Gly366Arg
NM_170726.3:c.1096G>C	NP_733844.1:p.Gly366Arg
ENST00000290597.9:c.1096G>C	ENSP00000290597.5:p.Gly366Arg
ENST00000375341.7:c.1096G>C	ENSP00000364490.3:p.Gly366Arg
ENST00000494072.3:c.2148G>C
ENST00000538309.5:c.916G>C	ENSP00000442988.1:p.Gly306Arg
ENST00000538839.5:c.1096G>C	ENSP00000446071.1:p.Gly366Arg
XM_011542352.1:c.1096G>C	XP_011540654.1:p.Gly366Arg
XM_011542353.1:c.908G>C	XP_011540655.1:p.Arg303Thr
XR_001737510.1:n.965G>C
XR_946786.1:n.965G>C