Canonical Allele Identifier: CA392789945
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010673T>A , CM000677.2:g.58010673T>A GRCh38
NC_000015.9:g.58302871T>A , CM000677.1:g.58302871T>A GRCh37
NC_000015.8:g.56090163T>A NCBI36
NG_012259.1:g.60036A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.469A>T MANE Select ENSP00000249750.4:p.Ile157Phe
ENST00000249750.8:c.469A>T ENSP00000249750.4:p.Ile157Phe
ENST00000347587.7:c.469A>T ENSP00000309623.3:p.Ile157Phe
ENST00000430119.6:c.*443A>T ENSP00000416754.2:n.*443A>T
ENST00000537372.5:c.406A>T ENSP00000438296.1:p.Ile136Phe
ENST00000558231.5:c.382A>T ENSP00000453600.1:p.Ile128Phe
ENST00000559266.5:n.318+3185A>T
ENST00000559517.5:c.181A>T ENSP00000453408.1:p.Ile61Phe
ENST00000561070.5:c.181A>T ENSP00000452850.1:p.Ile61Phe
NM_001206897.1:c.406A>T NP_001193826.1:p.Ile136Phe
NM_003888.3:c.469A>T NP_003879.2:p.Ile157Phe
NM_170696.2:c.469A>T NP_733797.1:p.Ile157Phe
NM_170697.2:c.181A>T NP_733798.1:p.Ile61Phe
XM_024450095.1:c.469A>T XP_024305863.1:p.Ile157Phe
NM_003888.4:c.469A>T MANE Select NP_003879.2:p.Ile157Phe
NM_170696.3:c.469A>T NP_733797.1:p.Ile157Phe
NM_170697.3:c.181A>T NP_733798.1:p.Ile61Phe
NM_001206897.2:c.406A>T NP_001193826.1:p.Ile136Phe