Canonical Allele Identifier: CA3656837
Community Standard Title: NM_001080.3(ALDH5A1):c.1015-2A>C
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24522765A>C , CM000668.2:g.24522765A>C GRCh38
NC_000006.11:g.24522993A>C , CM000668.1:g.24522993A>C GRCh37
NC_000006.10:g.24630972A>C NCBI36
NG_008161.1:g.32797A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.1015-2A>C MANE Select NP_001071.1:n.1015-2A>C
ENST00000357578.8:c.1015-2A>C MANE Select ENSP00000350191.3:n.1015-2A>C
NM_001368954.1:c.871-2A>C NP_001355883.1:n.871-2A>C
NM_170740.1:c.1054-2A>C NP_733936.1:n.1054-2A>C
ENST00000348925.2:c.1054-2A>C ENSP00000314649.3:n.1054-2A>C
ENST00000357578.7:c.1015-2A>C ENSP00000350191.3:n.1015-2A>C
ENST00000479394.1:n.128A>C
ENST00000479394.2:n.128A>C
ENST00000491546.5:c.931-2A>C ENSP00000417687.1:n.931-2A>C
ENST00000672352.1:c.634-2A>C ENSP00000500876.1:n.634-2A>C
ENST00000672619.1:n.375-2A>C
ENST00000672652.1:c.978-2A>C