Canonical Allele Identifier: CA647388

Gene: ALDH4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18885565T>C , CM000663.2:g.18885565T>C	GRCh38
NC_000001.10:g.19212059T>C , CM000663.1:g.19212059T>C	GRCh37
NC_000001.9:g.19084646T>C	NCBI36
NG_012283.1:g.22235A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003748.4:c.361A>G MANE Select	NP_003739.2:p.Ile121Val
ENST00000375341.8:c.361A>G MANE Select	ENSP00000364490.3:p.Ile121Val
NM_001161504.1:c.181A>G	NP_001154976.1:p.Ile61Val
NM_001161504.2:c.181A>G	NP_001154976.1:p.Ile61Val
NM_001319218.1:c.361A>G	NP_001306147.1:p.Ile121Val
NM_001319218.2:c.361A>G	NP_001306147.1:p.Ile121Val
NM_003748.3:c.361A>G	NP_003739.2:p.Ile121Val
NM_170726.2:c.361A>G	NP_733844.1:p.Ile121Val
NM_170726.3:c.361A>G	NP_733844.1:p.Ile121Val
ENST00000290597.9:c.361A>G	ENSP00000290597.5:p.Ile121Val
ENST00000375341.7:c.361A>G	ENSP00000364490.3:p.Ile121Val
ENST00000432718.1:c.313A>G	ENSP00000393209.1:p.Ile105Val
ENST00000454547.1:n.55A>G
ENST00000494072.3:c.1298A>G
ENST00000538309.5:c.181A>G	ENSP00000442988.1:p.Ile61Val
ENST00000538839.5:c.361A>G	ENSP00000446071.1:p.Ile121Val
XM_011542352.1:c.361A>G	XP_011540654.1:p.Ile121Val
XM_011542353.1:c.361A>G	XP_011540655.1:p.Ile121Val
XR_001737510.1:n.418A>G
XR_946786.1:n.418A>G