Canonical Allele Identifier: CA338770020
Community Standard Title: NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)
Gene: ALDH4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18902523T>C , CM000663.2:g.18902523T>C GRCh38
NC_000001.10:g.19229017T>C , CM000663.1:g.19229017T>C GRCh37
NC_000001.9:g.19101604T>C NCBI36
NG_012283.1:g.5277A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003748.4:c.1A>G MANE Select NP_003739.2:p.Met1Val
ENST00000375341.8:c.1A>G MANE Select ENSP00000364490.3:p.Met1Val
NM_001319218.1:c.1A>G NP_001306147.1:p.Met1Val
NM_001319218.2:c.1A>G NP_001306147.1:p.Met1Val
NM_003748.3:c.1A>G NP_003739.2:p.Met1Val
NM_170726.2:c.1A>G NP_733844.1:p.Met1Val
NM_170726.3:c.1A>G NP_733844.1:p.Met1Val
ENST00000290597.9:c.1A>G ENSP00000290597.5:p.Met1Val
ENST00000375341.7:c.1A>G ENSP00000364490.3:p.Met1Val
ENST00000432718.1:c.1A>G ENSP00000393209.1:p.Met1Val
ENST00000494072.3:c.911+6016A>G
ENST00000538839.5:c.1A>G ENSP00000446071.1:p.Met1Val
XM_011542352.1:c.1A>G XP_011540654.1:p.Met1Val
XM_011542353.1:c.1A>G XP_011540655.1:p.Met1Val
XR_001737510.1:n.58A>G
XR_946786.1:n.58A>G