Canonical Allele Identifier: CA392790145
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.431T>G MANE Select ENSP00000249750.4:p.Ile144Ser
ENST00000249750.8:c.431T>G ENSP00000249750.4:p.Ile144Ser
ENST00000347587.7:c.431T>G ENSP00000309623.3:p.Ile144Ser
ENST00000430119.6:c.*405T>G ENSP00000416754.2:n.*405T>G
ENST00000537372.5:c.368T>G ENSP00000438296.1:p.Ile123Ser
ENST00000558231.5:c.344T>G ENSP00000453600.1:p.Ile115Ser
ENST00000559266.5:n.318+3147T>G
ENST00000559517.5:c.143T>G ENSP00000453408.1:p.Ile48Ser
ENST00000561070.5:c.143T>G ENSP00000452850.1:p.Ile48Ser
NM_001206897.1:c.368T>G NP_001193826.1:p.Ile123Ser
NM_003888.3:c.431T>G NP_003879.2:p.Ile144Ser
NM_170696.2:c.431T>G NP_733797.1:p.Ile144Ser
NM_170697.2:c.143T>G NP_733798.1:p.Ile48Ser
XM_024450095.1:c.431T>G XP_024305863.1:p.Ile144Ser
NM_003888.4:c.431T>G MANE Select NP_003879.2:p.Ile144Ser
NM_170696.3:c.431T>G NP_733797.1:p.Ile144Ser
NM_170697.3:c.143T>G NP_733798.1:p.Ile48Ser
NM_001206897.2:c.368T>G NP_001193826.1:p.Ile123Ser