Canonical Allele Identifier: CA647009
Community Standard Title: NM_003748.4(ALDH4A1):c.1186-11G>A
Gene: ALDH4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18876478C>T , CM000663.2:g.18876478C>T GRCh38
NC_000001.10:g.19202972C>T , CM000663.1:g.19202972C>T GRCh37
NC_000001.9:g.19075559C>T NCBI36
NG_012283.1:g.31322G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003748.4:c.1186-11G>A MANE Select NP_003739.2:n.1186-11G>A
ENST00000375341.8:c.1186-11G>A MANE Select ENSP00000364490.3:n.1186-11G>A
NM_001161504.1:c.1006-11G>A NP_001154976.1:n.1006-11G>A
NM_001161504.2:c.1006-11G>A NP_001154976.1:n.1006-11G>A
NM_001319218.1:c.1185+730G>A NP_001306147.1:n.1185+730G>A
NM_001319218.2:c.1185+730G>A NP_001306147.1:n.1185+730G>A
NM_003748.3:c.1186-11G>A NP_003739.2:n.1186-11G>A
NM_170726.2:c.1186-11G>A NP_733844.1:n.1186-11G>A
NM_170726.3:c.1186-11G>A NP_733844.1:n.1186-11G>A
ENST00000290597.9:c.1186-11G>A ENSP00000290597.5:n.1186-11G>A
ENST00000375341.7:c.1186-11G>A ENSP00000364490.3:n.1186-11G>A
ENST00000494072.3:c.2238-11G>A
ENST00000538309.5:c.1006-11G>A ENSP00000442988.1:n.1006-11G>A
ENST00000538839.5:c.1185+730G>A ENSP00000446071.1:n.1185+730G>A
XM_011542352.1:c.1185+730G>A XP_011540654.1:n.1185+730G>A
XM_011542353.1:c.*7+730G>A XP_011540655.1:n.*7+730G>A
XR_001737510.1:n.1054+730G>A
XR_946786.1:n.1055-11G>A