Canonical Allele Identifier: CA2573140167
Community Standard Title: NM_001080.3(ALDH5A1):c.1015-3C>G
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24522764C>G , CM000668.2:g.24522764C>G GRCh38
NC_000006.11:g.24522992C>G , CM000668.1:g.24522992C>G GRCh37
NC_000006.10:g.24630971C>G NCBI36
NG_008161.1:g.32796C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.1015-3C>G MANE Select NP_001071.1:n.1015-3C>G
ENST00000357578.8:c.1015-3C>G MANE Select ENSP00000350191.3:n.1015-3C>G
NM_001368954.1:c.871-3C>G NP_001355883.1:n.871-3C>G
NM_170740.1:c.1054-3C>G NP_733936.1:n.1054-3C>G
ENST00000348925.2:c.1054-3C>G ENSP00000314649.3:n.1054-3C>G
ENST00000357578.7:c.1015-3C>G ENSP00000350191.3:n.1015-3C>G
ENST00000479394.1:n.127C>G
ENST00000479394.2:n.127C>G
ENST00000491546.5:c.931-3C>G ENSP00000417687.1:n.931-3C>G
ENST00000672352.1:c.634-3C>G ENSP00000500876.1:n.634-3C>G
ENST00000672619.1:n.375-3C>G
ENST00000672652.1:c.978-3C>G