Canonical Allele Identifier: CA490587319
Gene: ALDH1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.58302965G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010767G>A , CM000677.2:g.58010767G>A GRCh38
NC_000015.9:g.58302965G>A , CM000677.1:g.58302965G>A GRCh37
NC_000015.8:g.56090257G>A NCBI36
NG_012259.1:g.59942C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.375C>T MANE Select ENSP00000249750.4:p.Ser125=
ENST00000249750.8:c.375C>T ENSP00000249750.4:p.Ser125=
ENST00000347587.7:c.375C>T ENSP00000309623.3:p.Ser125=
ENST00000430119.6:c.*349C>T ENSP00000416754.2:n.*349C>T
ENST00000537372.5:c.312C>T ENSP00000438296.1:p.Ser104=
ENST00000558231.5:c.288C>T ENSP00000453600.1:p.Ser96=
ENST00000559266.5:n.318+3091C>T
ENST00000559517.5:c.87C>T ENSP00000453408.1:p.Ser29=
ENST00000561070.5:c.87C>T ENSP00000452850.1:p.Ser29=
NM_001206897.1:c.312C>T NP_001193826.1:p.Ser104=
NM_003888.3:c.375C>T NP_003879.2:p.Ser125=
NM_170696.2:c.375C>T NP_733797.1:p.Ser125=
NM_170697.2:c.87C>T NP_733798.1:p.Ser29=
XM_024450095.1:c.375C>T XP_024305863.1:p.Ser125=
NM_003888.4:c.375C>T MANE Select NP_003879.2:p.Ser125=
NM_170696.3:c.375C>T NP_733797.1:p.Ser125=
NM_170697.3:c.87C>T NP_733798.1:p.Ser29=
NM_001206897.2:c.312C>T NP_001193826.1:p.Ser104=