Canonical Allele Identifier: CA728948533
Gene: ALDH4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1171721993
gnomAD v3: 1-18902164-T-C
gnomAD v4: 1-18902164-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18902164T>C , CM000663.2:g.18902164T>C GRCh38
NC_000001.10:g.19228658T>C , CM000663.1:g.19228658T>C GRCh37
NC_000001.9:g.19101245T>C NCBI36
NG_012283.1:g.5636A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.62+298A>G MANE Select ENSP00000364490.3:n.62+298A>G
ENST00000290597.9:c.62+298A>G ENSP00000290597.5:n.62+298A>G
ENST00000375341.7:c.62+298A>G ENSP00000364490.3:n.62+298A>G
ENST00000432718.1:c.62+298A>G ENSP00000393209.1:n.62+298A>G
ENST00000494072.3:c.911+6375A>G
ENST00000538839.5:c.62+298A>G ENSP00000446071.1:n.62+298A>G
NM_003748.3:c.62+298A>G NP_003739.2:n.62+298A>G
NM_170726.2:c.62+298A>G NP_733844.1:n.62+298A>G
XM_011542352.1:c.62+298A>G XP_011540654.1:n.62+298A>G
XM_011542353.1:c.62+298A>G XP_011540655.1:n.62+298A>G
XR_946786.1:n.119+298A>G
NM_001319218.1:c.62+298A>G NP_001306147.1:n.62+298A>G
XR_001737510.1:n.119+298A>G
NM_003748.4:c.62+298A>G MANE Select NP_003739.2:n.62+298A>G
NM_170726.3:c.62+298A>G NP_733844.1:n.62+298A>G
NM_001319218.2:c.62+298A>G NP_001306147.1:n.62+298A>G