Canonical Allele Identifier: CA338769930
Gene: ALDH4A1 HGNC NCBI

Linked Data

gnomAD v4: 1-18902510-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18902510G>A , CM000663.2:g.18902510G>A GRCh38
NC_000001.10:g.19229004G>A , CM000663.1:g.19229004G>A GRCh37
NC_000001.9:g.19101591G>A NCBI36
NG_012283.1:g.5290C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.14C>T MANE Select ENSP00000364490.3:p.Ala5Val
ENST00000290597.9:c.14C>T ENSP00000290597.5:p.Ala5Val
ENST00000375341.7:c.14C>T ENSP00000364490.3:p.Ala5Val
ENST00000432718.1:c.14C>T ENSP00000393209.1:p.Ala5Val
ENST00000494072.3:c.911+6029C>T
ENST00000538839.5:c.14C>T ENSP00000446071.1:p.Ala5Val
NM_003748.3:c.14C>T NP_003739.2:p.Ala5Val
NM_170726.2:c.14C>T NP_733844.1:p.Ala5Val
XM_011542352.1:c.14C>T XP_011540654.1:p.Ala5Val
XM_011542353.1:c.14C>T XP_011540655.1:p.Ala5Val
XR_946786.1:n.71C>T
NM_001319218.1:c.14C>T NP_001306147.1:p.Ala5Val
XR_001737510.1:n.71C>T
NM_003748.4:c.14C>T MANE Select NP_003739.2:p.Ala5Val
NM_170726.3:c.14C>T NP_733844.1:p.Ala5Val
NM_001319218.2:c.14C>T NP_001306147.1:p.Ala5Val