Canonical Allele Identifier: CA5882828
Gene: AMPD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.10493369G>A , CM000673.2:g.10493369G>A GRCh38
NC_000011.9:g.10514916G>A , CM000673.1:g.10514916G>A GRCh37
NC_000011.8:g.10471492G>A NCBI36
NG_012041.1:g.47693G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396553.7:c.960G>A MANE Select ENSP00000379801.2:p.Ala320=
ENST00000396553.6:c.960G>A ENSP00000379801.2:p.Ala320=
ENST00000396554.7:c.987G>A ENSP00000379802.3:p.Ala329=
ENST00000444303.6:c.483G>A ENSP00000396000.2:p.Ala161=
ENST00000528723.5:c.981G>A ENSP00000436987.1:p.Ala327=
ENST00000529507.5:c.960G>A ENSP00000431648.1:p.Ala320=
ENST00000529834.5:c.960G>A ENSP00000435382.1:p.Ala320=
ENST00000533116.1:c.3G>A ENSP00000433351.1:p.Ala1=
ENST00000534047.5:c.*262G>A ENSP00000433937.1:n.*262G>A
NM_000480.2:c.987G>A NP_000471.1:p.Ala329=
NM_001025389.1:c.960G>A NP_001020560.1:p.Ala320=
NM_001025390.1:c.981G>A NP_001020561.1:p.Ala327=
NM_001172430.1:c.960G>A NP_001165901.1:p.Ala320=
NM_001172431.1:c.483G>A NP_001165902.1:p.Ala161=
NM_000480.3:c.987G>A NP_000471.1:p.Ala329=
NM_001025389.2:c.960G>A MANE Select NP_001020560.1:p.Ala320=
NM_001025390.2:c.981G>A NP_001020561.1:p.Ala327=
NM_001172431.2:c.483G>A NP_001165902.1:p.Ala161=