Canonical Allele Identifier: CA7584087
Gene: ALDH1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 788449
ClinVar RCV Id: RCV000970884
dbSNP Id: rs16939660

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010689T>C , CM000677.2:g.58010689T>C GRCh38
NC_000015.9:g.58302887T>C , CM000677.1:g.58302887T>C GRCh37
NC_000015.8:g.56090179T>C NCBI36
NG_012259.1:g.60020A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.453A>G MANE Select ENSP00000249750.4:p.Ala151=
ENST00000249750.8:c.453A>G ENSP00000249750.4:p.Ala151=
ENST00000347587.7:c.453A>G ENSP00000309623.3:p.Ala151=
ENST00000430119.6:c.*427A>G ENSP00000416754.2:n.*427A>G
ENST00000537372.5:c.390A>G ENSP00000438296.1:p.Ala130=
ENST00000558231.5:c.366A>G ENSP00000453600.1:p.Ala122=
ENST00000559266.5:n.318+3169A>G
ENST00000559517.5:c.165A>G ENSP00000453408.1:p.Ala55=
ENST00000561070.5:c.165A>G ENSP00000452850.1:p.Ala55=
NM_001206897.1:c.390A>G NP_001193826.1:p.Ala130=
NM_003888.3:c.453A>G NP_003879.2:p.Ala151=
NM_170696.2:c.453A>G NP_733797.1:p.Ala151=
NM_170697.2:c.165A>G NP_733798.1:p.Ala55=
XM_024450095.1:c.453A>G XP_024305863.1:p.Ala151=
NM_003888.4:c.453A>G MANE Select NP_003879.2:p.Ala151=
NM_170696.3:c.453A>G NP_733797.1:p.Ala151=
NM_170697.3:c.165A>G NP_733798.1:p.Ala55=
NM_001206897.2:c.390A>G NP_001193826.1:p.Ala130=