Canonical Allele Identifier: CA338761435
Community Standard Title: NM_003748.4(ALDH4A1):c.298-1G>C
Gene: ALDH4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18885629C>G , CM000663.2:g.18885629C>G GRCh38
NC_000001.10:g.19212123C>G , CM000663.1:g.19212123C>G GRCh37
NC_000001.9:g.19084710C>G NCBI36
NG_012283.1:g.22171G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003748.4:c.298-1G>C MANE Select NP_003739.2:n.298-1G>C
ENST00000375341.8:c.298-1G>C MANE Select ENSP00000364490.3:n.298-1G>C
NM_001161504.1:c.118-1G>C NP_001154976.1:n.118-1G>C
NM_001161504.2:c.118-1G>C NP_001154976.1:n.118-1G>C
NM_001319218.1:c.298-1G>C NP_001306147.1:n.298-1G>C
NM_001319218.2:c.298-1G>C NP_001306147.1:n.298-1G>C
NM_003748.3:c.298-1G>C NP_003739.2:n.298-1G>C
NM_170726.2:c.298-1G>C NP_733844.1:n.298-1G>C
NM_170726.3:c.298-1G>C NP_733844.1:n.298-1G>C
ENST00000290597.9:c.298-1G>C ENSP00000290597.5:n.298-1G>C
ENST00000375341.7:c.298-1G>C ENSP00000364490.3:n.298-1G>C
ENST00000432718.1:c.250-1G>C ENSP00000393209.1:n.250-1G>C
ENST00000494072.3:c.1235-1G>C
ENST00000538309.5:c.118-1G>C ENSP00000442988.1:n.118-1G>C
ENST00000538839.5:c.298-1G>C ENSP00000446071.1:n.298-1G>C
XM_011542352.1:c.298-1G>C XP_011540654.1:n.298-1G>C
XM_011542353.1:c.298-1G>C XP_011540655.1:n.298-1G>C
XR_001737510.1:n.355-1G>C
XR_946786.1:n.355-1G>C