Canonical Allele Identifier: CA392790113
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010705G>T , CM000677.2:g.58010705G>T GRCh38
NC_000015.9:g.58302903G>T , CM000677.1:g.58302903G>T GRCh37
NC_000015.8:g.56090195G>T NCBI36
NG_012259.1:g.60004C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.437C>A MANE Select ENSP00000249750.4:p.Thr146Asn
ENST00000249750.8:c.437C>A ENSP00000249750.4:p.Thr146Asn
ENST00000347587.7:c.437C>A ENSP00000309623.3:p.Thr146Asn
ENST00000430119.6:c.*411C>A ENSP00000416754.2:n.*411C>A
ENST00000537372.5:c.374C>A ENSP00000438296.1:p.Thr125Asn
ENST00000558231.5:c.350C>A ENSP00000453600.1:p.Thr117Asn
ENST00000559266.5:n.318+3153C>A
ENST00000559517.5:c.149C>A ENSP00000453408.1:p.Thr50Asn
ENST00000561070.5:c.149C>A ENSP00000452850.1:p.Thr50Asn
NM_001206897.1:c.374C>A NP_001193826.1:p.Thr125Asn
NM_003888.3:c.437C>A NP_003879.2:p.Thr146Asn
NM_170696.2:c.437C>A NP_733797.1:p.Thr146Asn
NM_170697.2:c.149C>A NP_733798.1:p.Thr50Asn
XM_024450095.1:c.437C>A XP_024305863.1:p.Thr146Asn
NM_003888.4:c.437C>A MANE Select NP_003879.2:p.Thr146Asn
NM_170696.3:c.437C>A NP_733797.1:p.Thr146Asn
NM_170697.3:c.149C>A NP_733798.1:p.Thr50Asn
NM_001206897.2:c.374C>A NP_001193826.1:p.Thr125Asn