Canonical Allele Identifier: CA490587259
Gene: ALDH1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.58302887T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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