Canonical Allele Identifier: CA392790155
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010715C>A , CM000677.2:g.58010715C>A GRCh38
NC_000015.9:g.58302913C>A , CM000677.1:g.58302913C>A GRCh37
NC_000015.8:g.56090205C>A NCBI36
NG_012259.1:g.59994G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.427G>T MANE Select ENSP00000249750.4:p.Val143Phe
ENST00000249750.8:c.427G>T ENSP00000249750.4:p.Val143Phe
ENST00000347587.7:c.427G>T ENSP00000309623.3:p.Val143Phe
ENST00000430119.6:c.*401G>T ENSP00000416754.2:n.*401G>T
ENST00000537372.5:c.364G>T ENSP00000438296.1:p.Val122Phe
ENST00000558231.5:c.340G>T ENSP00000453600.1:p.Val114Phe
ENST00000559266.5:n.318+3143G>T
ENST00000559517.5:c.139G>T ENSP00000453408.1:p.Val47Phe
ENST00000561070.5:c.139G>T ENSP00000452850.1:p.Val47Phe
NM_001206897.1:c.364G>T NP_001193826.1:p.Val122Phe
NM_003888.3:c.427G>T NP_003879.2:p.Val143Phe
NM_170696.2:c.427G>T NP_733797.1:p.Val143Phe
NM_170697.2:c.139G>T NP_733798.1:p.Val47Phe
XM_024450095.1:c.427G>T XP_024305863.1:p.Val143Phe
NM_003888.4:c.427G>T MANE Select NP_003879.2:p.Val143Phe
NM_170696.3:c.427G>T NP_733797.1:p.Val143Phe
NM_170697.3:c.139G>T NP_733798.1:p.Val47Phe
NM_001206897.2:c.364G>T NP_001193826.1:p.Val122Phe