Canonical Allele Identifier: CA392790054
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010694A>T , CM000677.2:g.58010694A>T GRCh38
NC_000015.9:g.58302892A>T , CM000677.1:g.58302892A>T GRCh37
NC_000015.8:g.56090184A>T NCBI36
NG_012259.1:g.60015T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.448T>A MANE Select ENSP00000249750.4:p.Tyr150Asn
ENST00000249750.8:c.448T>A ENSP00000249750.4:p.Tyr150Asn
ENST00000347587.7:c.448T>A ENSP00000309623.3:p.Tyr150Asn
ENST00000430119.6:c.*422T>A ENSP00000416754.2:n.*422T>A
ENST00000537372.5:c.385T>A ENSP00000438296.1:p.Tyr129Asn
ENST00000558231.5:c.361T>A ENSP00000453600.1:p.Tyr121Asn
ENST00000559266.5:n.318+3164T>A
ENST00000559517.5:c.160T>A ENSP00000453408.1:p.Tyr54Asn
ENST00000561070.5:c.160T>A ENSP00000452850.1:p.Tyr54Asn
NM_001206897.1:c.385T>A NP_001193826.1:p.Tyr129Asn
NM_003888.3:c.448T>A NP_003879.2:p.Tyr150Asn
NM_170696.2:c.448T>A NP_733797.1:p.Tyr150Asn
NM_170697.2:c.160T>A NP_733798.1:p.Tyr54Asn
XM_024450095.1:c.448T>A XP_024305863.1:p.Tyr150Asn
NM_003888.4:c.448T>A MANE Select NP_003879.2:p.Tyr150Asn
NM_170696.3:c.448T>A NP_733797.1:p.Tyr150Asn
NM_170697.3:c.160T>A NP_733798.1:p.Tyr54Asn
NM_001206897.2:c.385T>A NP_001193826.1:p.Tyr129Asn