Canonical Allele Identifier: CA7584090
Gene: ALDH1A2 HGNC NCBI

Linked Data

dbSNP Id: rs758145548

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010695A>G , CM000677.2:g.58010695A>G GRCh38
NC_000015.9:g.58302893A>G , CM000677.1:g.58302893A>G GRCh37
NC_000015.8:g.56090185A>G NCBI36
NG_012259.1:g.60014T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.447T>C MANE Select ENSP00000249750.4:p.Tyr149=
ENST00000249750.8:c.447T>C ENSP00000249750.4:p.Tyr149=
ENST00000347587.7:c.447T>C ENSP00000309623.3:p.Tyr149=
ENST00000430119.6:c.*421T>C ENSP00000416754.2:n.*421T>C
ENST00000537372.5:c.384T>C ENSP00000438296.1:p.Tyr128=
ENST00000558231.5:c.360T>C ENSP00000453600.1:p.Tyr120=
ENST00000559266.5:n.318+3163T>C
ENST00000559517.5:c.159T>C ENSP00000453408.1:p.Tyr53=
ENST00000561070.5:c.159T>C ENSP00000452850.1:p.Tyr53=
NM_001206897.1:c.384T>C NP_001193826.1:p.Tyr128=
NM_003888.3:c.447T>C NP_003879.2:p.Tyr149=
NM_170696.2:c.447T>C NP_733797.1:p.Tyr149=
NM_170697.2:c.159T>C NP_733798.1:p.Tyr53=
XM_024450095.1:c.447T>C XP_024305863.1:p.Tyr149=
NM_003888.4:c.447T>C MANE Select NP_003879.2:p.Tyr149=
NM_170696.3:c.447T>C NP_733797.1:p.Tyr149=
NM_170697.3:c.159T>C NP_733798.1:p.Tyr53=
NM_001206897.2:c.384T>C NP_001193826.1:p.Tyr128=