Canonical Allele Identifier: CA5883301

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10505847C>G , CM000673.2:g.10505847C>G	GRCh38
NC_000011.9:g.10527394C>G , CM000673.1:g.10527394C>G	GRCh37
NC_000011.8:g.10483970C>G	NCBI36
NG_012041.1:g.60171C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.2267C>G MANE Select	NP_001020560.1:p.Ala756Gly
ENST00000396553.7:c.2267C>G MANE Select	ENSP00000379801.2:p.Ala756Gly
NM_000480.2:c.2294C>G	NP_000471.1:p.Ala765Gly
NM_000480.3:c.2294C>G	NP_000471.1:p.Ala765Gly
NM_001025389.1:c.2267C>G	NP_001020560.1:p.Ala756Gly
NM_001025390.1:c.2288C>G	NP_001020561.1:p.Ala763Gly
NM_001025390.2:c.2288C>G	NP_001020561.1:p.Ala763Gly
NM_001172430.1:c.2267C>G	NP_001165901.1:p.Ala756Gly
NM_001172431.1:c.1790C>G	NP_001165902.1:p.Ala597Gly
NM_001172431.2:c.1790C>G	NP_001165902.1:p.Ala597Gly
ENST00000396553.6:c.2267C>G	ENSP00000379801.2:p.Ala756Gly
ENST00000396554.7:c.2294C>G	ENSP00000379802.3:p.Ala765Gly
ENST00000444303.6:c.1790C>G	ENSP00000396000.2:p.Ala597Gly
ENST00000528723.5:c.2288C>G	ENSP00000436987.1:p.Ala763Gly
ENST00000529507.5:c.2267C>G	ENSP00000431648.1:p.Ala756Gly
ENST00000529744.1:c.549C>G	ENSP00000434608.1:n.549C>G
ENST00000534047.5:c.*1620C>G	ENSP00000433937.1:n.*1620C>G