Canonical Allele Identifier: CA647167

Gene: ALDH4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18879364T>C , CM000663.2:g.18879364T>C	GRCh38
NC_000001.10:g.19205858T>C , CM000663.1:g.19205858T>C	GRCh37
NC_000001.9:g.19078445T>C	NCBI36
NG_012283.1:g.28436A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003748.4:c.876A>G MANE Select	NP_003739.2:p.Lys292=
ENST00000375341.8:c.876A>G MANE Select	ENSP00000364490.3:p.Lys292=
NM_001161504.1:c.696A>G	NP_001154976.1:p.Lys232=
NM_001161504.2:c.696A>G	NP_001154976.1:p.Lys232=
NM_001319218.1:c.876A>G	NP_001306147.1:p.Lys292=
NM_001319218.2:c.876A>G	NP_001306147.1:p.Lys292=
NM_003748.3:c.876A>G	NP_003739.2:p.Lys292=
NM_170726.2:c.876A>G	NP_733844.1:p.Lys292=
NM_170726.3:c.876A>G	NP_733844.1:p.Lys292=
ENST00000290597.9:c.876A>G	ENSP00000290597.5:p.Lys292=
ENST00000375341.7:c.876A>G	ENSP00000364490.3:p.Lys292=
ENST00000494072.3:c.1928A>G
ENST00000538309.5:c.696A>G	ENSP00000442988.1:p.Lys232=
ENST00000538839.5:c.876A>G	ENSP00000446071.1:p.Lys292=
XM_011542352.1:c.876A>G	XP_011540654.1:p.Lys292=
XM_011542353.1:c.688A>G	XP_011540655.1:p.Thr230Ala
XR_001737510.1:n.745A>G
XR_946786.1:n.745A>G