Canonical Allele Identifier: CA392790129
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010708T>A , CM000677.2:g.58010708T>A GRCh38
NC_000015.9:g.58302906T>A , CM000677.1:g.58302906T>A GRCh37
NC_000015.8:g.56090198T>A NCBI36
NG_012259.1:g.60001A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.434A>T MANE Select ENSP00000249750.4:p.Lys145Ile
ENST00000249750.8:c.434A>T ENSP00000249750.4:p.Lys145Ile
ENST00000347587.7:c.434A>T ENSP00000309623.3:p.Lys145Ile
ENST00000430119.6:c.*408A>T ENSP00000416754.2:n.*408A>T
ENST00000537372.5:c.371A>T ENSP00000438296.1:p.Lys124Ile
ENST00000558231.5:c.347A>T ENSP00000453600.1:p.Lys116Ile
ENST00000559266.5:n.318+3150A>T
ENST00000559517.5:c.146A>T ENSP00000453408.1:p.Lys49Ile
ENST00000561070.5:c.146A>T ENSP00000452850.1:p.Lys49Ile
NM_001206897.1:c.371A>T NP_001193826.1:p.Lys124Ile
NM_003888.3:c.434A>T NP_003879.2:p.Lys145Ile
NM_170696.2:c.434A>T NP_733797.1:p.Lys145Ile
NM_170697.2:c.146A>T NP_733798.1:p.Lys49Ile
XM_024450095.1:c.434A>T XP_024305863.1:p.Lys145Ile
NM_003888.4:c.434A>T MANE Select NP_003879.2:p.Lys145Ile
NM_170696.3:c.434A>T NP_733797.1:p.Lys145Ile
NM_170697.3:c.146A>T NP_733798.1:p.Lys49Ile
NM_001206897.2:c.371A>T NP_001193826.1:p.Lys124Ile