Canonical Allele Identifier: CA362971605
Community Standard Title: NM_001080.3(ALDH5A1):c.763A>G (p.Asn255Asp)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24515203A>G , CM000668.2:g.24515203A>G GRCh38
NC_000006.11:g.24515431A>G , CM000668.1:g.24515431A>G GRCh37
NC_000006.10:g.24623410A>G NCBI36
NG_008161.1:g.25235A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.763A>G MANE Select NP_001071.1:p.Asn255Asp
ENST00000357578.8:c.763A>G MANE Select ENSP00000350191.3:p.Asn255Asp
NM_001368954.1:c.727-5198A>G NP_001355883.1:n.727-5198A>G
NM_170740.1:c.802A>G NP_733936.1:p.Asn268Asp
ENST00000348925.2:c.802A>G ENSP00000314649.3:p.Asn268Asp
ENST00000357578.7:c.763A>G ENSP00000350191.3:p.Asn255Asp
ENST00000491546.5:c.679A>G ENSP00000417687.1:p.Asn227Asp
ENST00000672352.1:c.490-5198A>G ENSP00000500876.1:n.490-5198A>G
ENST00000672557.1:c.681A>G
ENST00000672619.1:n.123A>G
ENST00000672652.1:c.726A>G
ENST00000675422.1:n.1523A>G