Canonical Allele Identifier: CA392789879
Gene: ALDH1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1186763851

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010652C>T , CM000677.2:g.58010652C>T GRCh38
NC_000015.9:g.58302850C>T , CM000677.1:g.58302850C>T GRCh37
NC_000015.8:g.56090142C>T NCBI36
NG_012259.1:g.60057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.490G>A MANE Select ENSP00000249750.4:p.Val164Ile
ENST00000249750.8:c.490G>A ENSP00000249750.4:p.Val164Ile
ENST00000347587.7:c.490G>A ENSP00000309623.3:p.Val164Ile
ENST00000430119.6:c.*464G>A ENSP00000416754.2:n.*464G>A
ENST00000537372.5:c.427G>A ENSP00000438296.1:p.Val143Ile
ENST00000558231.5:c.403G>A ENSP00000453600.1:p.Val135Ile
ENST00000559266.5:n.318+3206G>A
ENST00000559517.5:c.202G>A ENSP00000453408.1:p.Val68Ile
ENST00000561070.5:c.202G>A ENSP00000452850.1:p.Val68Ile
NM_001206897.1:c.427G>A NP_001193826.1:p.Val143Ile
NM_003888.3:c.490G>A NP_003879.2:p.Val164Ile
NM_170696.2:c.490G>A NP_733797.1:p.Val164Ile
NM_170697.2:c.202G>A NP_733798.1:p.Val68Ile
XM_024450095.1:c.490G>A XP_024305863.1:p.Val164Ile
NM_003888.4:c.490G>A MANE Select NP_003879.2:p.Val164Ile
NM_170696.3:c.490G>A NP_733797.1:p.Val164Ile
NM_170697.3:c.202G>A NP_733798.1:p.Val68Ile
NM_001206897.2:c.427G>A NP_001193826.1:p.Val143Ile