Canonical Allele Identifier: CA999238795
Gene: ALDH4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1935828087
gnomAD v3: 1-18902348-G-A
gnomAD v4: 1-18902348-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18902348G>A , CM000663.2:g.18902348G>A GRCh38
NC_000001.10:g.19228842G>A , CM000663.1:g.19228842G>A GRCh37
NC_000001.9:g.19101429G>A NCBI36
NG_012283.1:g.5452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.62+114C>T MANE Select ENSP00000364490.3:n.62+114C>T
ENST00000290597.9:c.62+114C>T ENSP00000290597.5:n.62+114C>T
ENST00000375341.7:c.62+114C>T ENSP00000364490.3:n.62+114C>T
ENST00000432718.1:c.62+114C>T ENSP00000393209.1:n.62+114C>T
ENST00000494072.3:c.911+6191C>T
ENST00000538839.5:c.62+114C>T ENSP00000446071.1:n.62+114C>T
NM_003748.3:c.62+114C>T NP_003739.2:n.62+114C>T
NM_170726.2:c.62+114C>T NP_733844.1:n.62+114C>T
XM_011542352.1:c.62+114C>T XP_011540654.1:n.62+114C>T
XM_011542353.1:c.62+114C>T XP_011540655.1:n.62+114C>T
XR_946786.1:n.119+114C>T
NM_001319218.1:c.62+114C>T NP_001306147.1:n.62+114C>T
XR_001737510.1:n.119+114C>T
NM_003748.4:c.62+114C>T MANE Select NP_003739.2:n.62+114C>T
NM_170726.3:c.62+114C>T NP_733844.1:n.62+114C>T
NM_001319218.2:c.62+114C>T NP_001306147.1:n.62+114C>T