Canonical Allele Identifier: CA392790127
Gene: ALDH1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010707T>G , CM000677.2:g.58010707T>G GRCh38
NC_000015.9:g.58302905T>G , CM000677.1:g.58302905T>G GRCh37
NC_000015.8:g.56090197T>G NCBI36
NG_012259.1:g.60002A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.435A>C MANE Select ENSP00000249750.4:p.Lys145Asn
ENST00000249750.8:c.435A>C ENSP00000249750.4:p.Lys145Asn
ENST00000347587.7:c.435A>C ENSP00000309623.3:p.Lys145Asn
ENST00000430119.6:c.*409A>C ENSP00000416754.2:n.*409A>C
ENST00000537372.5:c.372A>C ENSP00000438296.1:p.Lys124Asn
ENST00000558231.5:c.348A>C ENSP00000453600.1:p.Lys116Asn
ENST00000559266.5:n.318+3151A>C
ENST00000559517.5:c.147A>C ENSP00000453408.1:p.Lys49Asn
ENST00000561070.5:c.147A>C ENSP00000452850.1:p.Lys49Asn
NM_001206897.1:c.372A>C NP_001193826.1:p.Lys124Asn
NM_003888.3:c.435A>C NP_003879.2:p.Lys145Asn
NM_170696.2:c.435A>C NP_733797.1:p.Lys145Asn
NM_170697.2:c.147A>C NP_733798.1:p.Lys49Asn
XM_024450095.1:c.435A>C XP_024305863.1:p.Lys145Asn
NM_003888.4:c.435A>C MANE Select NP_003879.2:p.Lys145Asn
NM_170696.3:c.435A>C NP_733797.1:p.Lys145Asn
NM_170697.3:c.147A>C NP_733798.1:p.Lys49Asn
NM_001206897.2:c.372A>C NP_001193826.1:p.Lys124Asn