Canonical Allele Identifier: CA3656736
Community Standard Title: NM_001080.3(ALDH5A1):c.727-13T>G
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24515154T>G , CM000668.2:g.24515154T>G GRCh38
NC_000006.11:g.24515382T>G , CM000668.1:g.24515382T>G GRCh37
NC_000006.10:g.24623361T>G NCBI36
NG_008161.1:g.25186T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.727-13T>G MANE Select NP_001071.1:n.727-13T>G
ENST00000357578.8:c.727-13T>G MANE Select ENSP00000350191.3:n.727-13T>G
NM_001368954.1:c.727-5247T>G NP_001355883.1:n.727-5247T>G
NM_170740.1:c.766-13T>G NP_733936.1:n.766-13T>G
ENST00000348925.2:c.766-13T>G ENSP00000314649.3:n.766-13T>G
ENST00000357578.7:c.727-13T>G ENSP00000350191.3:n.727-13T>G
ENST00000491546.5:c.643-13T>G ENSP00000417687.1:n.643-13T>G
ENST00000672352.1:c.490-5247T>G ENSP00000500876.1:n.490-5247T>G
ENST00000672557.1:c.645-13T>G
ENST00000672619.1:n.87-13T>G
ENST00000672652.1:c.677T>G
ENST00000675422.1:n.1487-13T>G