Canonical Allele Identifier: CA392790045
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010692G>T , CM000677.2:g.58010692G>T GRCh38
NC_000015.9:g.58302890G>T , CM000677.1:g.58302890G>T GRCh37
NC_000015.8:g.56090182G>T NCBI36
NG_012259.1:g.60017C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.450C>A MANE Select ENSP00000249750.4:p.Tyr150Ter
ENST00000249750.8:c.450C>A ENSP00000249750.4:p.Tyr150Ter
ENST00000347587.7:c.450C>A ENSP00000309623.3:p.Tyr150Ter
ENST00000430119.6:c.*424C>A ENSP00000416754.2:n.*424C>A
ENST00000537372.5:c.387C>A ENSP00000438296.1:p.Tyr129Ter
ENST00000558231.5:c.363C>A ENSP00000453600.1:p.Tyr121Ter
ENST00000559266.5:n.318+3166C>A
ENST00000559517.5:c.162C>A ENSP00000453408.1:p.Tyr54Ter
ENST00000561070.5:c.162C>A ENSP00000452850.1:p.Tyr54Ter
NM_001206897.1:c.387C>A NP_001193826.1:p.Tyr129Ter
NM_003888.3:c.450C>A NP_003879.2:p.Tyr150Ter
NM_170696.2:c.450C>A NP_733797.1:p.Tyr150Ter
NM_170697.2:c.162C>A NP_733798.1:p.Tyr54Ter
XM_024450095.1:c.450C>A XP_024305863.1:p.Tyr150Ter
NM_003888.4:c.450C>A MANE Select NP_003879.2:p.Tyr150Ter
NM_170696.3:c.450C>A NP_733797.1:p.Tyr150Ter
NM_170697.3:c.162C>A NP_733798.1:p.Tyr54Ter
NM_001206897.2:c.387C>A NP_001193826.1:p.Tyr129Ter