Canonical Allele Identifier: CA392790147
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010711A>T , CM000677.2:g.58010711A>T GRCh38
NC_000015.9:g.58302909A>T , CM000677.1:g.58302909A>T GRCh37
NC_000015.8:g.56090201A>T NCBI36
NG_012259.1:g.59998T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.431T>A MANE Select ENSP00000249750.4:p.Ile144Asn
ENST00000249750.8:c.431T>A ENSP00000249750.4:p.Ile144Asn
ENST00000347587.7:c.431T>A ENSP00000309623.3:p.Ile144Asn
ENST00000430119.6:c.*405T>A ENSP00000416754.2:n.*405T>A
ENST00000537372.5:c.368T>A ENSP00000438296.1:p.Ile123Asn
ENST00000558231.5:c.344T>A ENSP00000453600.1:p.Ile115Asn
ENST00000559266.5:n.318+3147T>A
ENST00000559517.5:c.143T>A ENSP00000453408.1:p.Ile48Asn
ENST00000561070.5:c.143T>A ENSP00000452850.1:p.Ile48Asn
NM_001206897.1:c.368T>A NP_001193826.1:p.Ile123Asn
NM_003888.3:c.431T>A NP_003879.2:p.Ile144Asn
NM_170696.2:c.431T>A NP_733797.1:p.Ile144Asn
NM_170697.2:c.143T>A NP_733798.1:p.Ile48Asn
XM_024450095.1:c.431T>A XP_024305863.1:p.Ile144Asn
NM_003888.4:c.431T>A MANE Select NP_003879.2:p.Ile144Asn
NM_170696.3:c.431T>A NP_733797.1:p.Ile144Asn
NM_170697.3:c.143T>A NP_733798.1:p.Ile48Asn
NM_001206897.2:c.368T>A NP_001193826.1:p.Ile123Asn