Canonical Allele Identifier: CA392789904
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010664T>A , CM000677.2:g.58010664T>A GRCh38
NC_000015.9:g.58302862T>A , CM000677.1:g.58302862T>A GRCh37
NC_000015.8:g.56090154T>A NCBI36
NG_012259.1:g.60045A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.478A>T MANE Select ENSP00000249750.4:p.Met160Leu
ENST00000249750.8:c.478A>T ENSP00000249750.4:p.Met160Leu
ENST00000347587.7:c.478A>T ENSP00000309623.3:p.Met160Leu
ENST00000430119.6:c.*452A>T ENSP00000416754.2:n.*452A>T
ENST00000537372.5:c.415A>T ENSP00000438296.1:p.Met139Leu
ENST00000558231.5:c.391A>T ENSP00000453600.1:p.Met131Leu
ENST00000559266.5:n.318+3194A>T
ENST00000559517.5:c.190A>T ENSP00000453408.1:p.Met64Leu
ENST00000561070.5:c.190A>T ENSP00000452850.1:p.Met64Leu
NM_001206897.1:c.415A>T NP_001193826.1:p.Met139Leu
NM_003888.3:c.478A>T NP_003879.2:p.Met160Leu
NM_170696.2:c.478A>T NP_733797.1:p.Met160Leu
NM_170697.2:c.190A>T NP_733798.1:p.Met64Leu
XM_024450095.1:c.478A>T XP_024305863.1:p.Met160Leu
NM_003888.4:c.478A>T MANE Select NP_003879.2:p.Met160Leu
NM_170696.3:c.478A>T NP_733797.1:p.Met160Leu
NM_170697.3:c.190A>T NP_733798.1:p.Met64Leu
NM_001206897.2:c.415A>T NP_001193826.1:p.Met139Leu