Canonical Allele Identifier: CA448787735
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24528380G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528152G>T , CM000668.2:g.24528152G>T GRCh38
NC_000006.11:g.24528380G>T , CM000668.1:g.24528380G>T GRCh37
NC_000006.10:g.24636359G>T NCBI36
NG_008161.1:g.38184G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1329G>T MANE Select ENSP00000350191.3:p.Leu443=
ENST00000479394.2:n.444G>T
ENST00000672352.1:c.948G>T ENSP00000500876.1:p.Leu316=
ENST00000672652.1:c.1292G>T
ENST00000348925.2:c.1368G>T ENSP00000314649.3:p.Leu456=
ENST00000357578.7:c.1329G>T ENSP00000350191.3:p.Leu443=
ENST00000479394.1:n.444G>T
ENST00000491546.5:c.1245G>T ENSP00000417687.1:p.Leu415=
NM_001080.3:c.1329G>T MANE Select NP_001071.1:p.Leu443=
NM_170740.1:c.1368G>T NP_733936.1:p.Leu456=
NM_001368954.1:c.1185G>T NP_001355883.1:p.Leu395=