Canonical Allele Identifier: CA362974631
Community Standard Title: NM_001080.3(ALDH5A1):c.1005C>G (p.Asn335Lys)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24520535C>G , CM000668.2:g.24520535C>G GRCh38
NC_000006.11:g.24520763C>G , CM000668.1:g.24520763C>G GRCh37
NC_000006.10:g.24628742C>G NCBI36
NG_008161.1:g.30567C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.1005C>G MANE Select NP_001071.1:p.Asn335Lys
ENST00000357578.8:c.1005C>G MANE Select ENSP00000350191.3:p.Asn335Lys
NM_001368954.1:c.861C>G NP_001355883.1:p.Asn287Lys
NM_170740.1:c.1044C>G NP_733936.1:p.Asn348Lys
ENST00000348925.2:c.1044C>G ENSP00000314649.3:p.Asn348Lys
ENST00000357578.7:c.1005C>G ENSP00000350191.3:p.Asn335Lys
ENST00000491546.5:c.921C>G ENSP00000417687.1:p.Asn307Lys
ENST00000672352.1:c.624C>G ENSP00000500876.1:p.Asn208Lys
ENST00000672619.1:n.365C>G
ENST00000672652.1:c.968C>G