Canonical Allele Identifier: CA362969614
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503371G>T , CM000668.2:g.24503371G>T GRCh38
NC_000006.11:g.24503599G>T , CM000668.1:g.24503599G>T GRCh37
NC_000006.10:g.24611578G>T NCBI36
NG_008161.1:g.13403G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.547G>T MANE Select ENSP00000350191.3:p.Ala183Ser
ENST00000672352.1:c.310G>T ENSP00000500876.1:p.Ala104Ser
ENST00000672557.1:c.465G>T
ENST00000672652.1:c.468G>T
ENST00000675422.1:n.1307G>T
ENST00000348925.2:c.547G>T ENSP00000314649.3:p.Ala183Ser
ENST00000357578.7:c.547G>T ENSP00000350191.3:p.Ala183Ser
ENST00000491546.5:c.463G>T ENSP00000417687.1:p.Ala155Ser
NM_001080.3:c.547G>T MANE Select NP_001071.1:p.Ala183Ser
NM_170740.1:c.547G>T NP_733936.1:p.Ala183Ser
NM_001368954.1:c.547G>T NP_001355883.1:p.Ala183Ser