Canonical Allele Identifier: CA3656647
Community Standard Title: NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503349C>T , CM000668.2:g.24503349C>T GRCh38
NC_000006.11:g.24503577C>T , CM000668.1:g.24503577C>T GRCh37
NC_000006.10:g.24611556C>T NCBI36
NG_008161.1:g.13381C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.525C>T MANE Select NP_001071.1:p.Tyr175=
ENST00000357578.8:c.525C>T MANE Select ENSP00000350191.3:p.Tyr175=
NM_001368954.1:c.525C>T NP_001355883.1:p.Tyr175=
NM_170740.1:c.525C>T NP_733936.1:p.Tyr175=
ENST00000348925.2:c.525C>T ENSP00000314649.3:p.Tyr175=
ENST00000357578.7:c.525C>T ENSP00000350191.3:p.Tyr175=
ENST00000491546.5:c.441C>T ENSP00000417687.1:p.Tyr147=
ENST00000672352.1:c.288C>T ENSP00000500876.1:p.Tyr96=
ENST00000672557.1:c.443C>T
ENST00000672652.1:c.446C>T
ENST00000675422.1:n.1285C>T