Canonical Allele Identifier: CA5882639

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10482096A>G , CM000673.2:g.10482096A>G	GRCh38
NC_000011.9:g.10503643A>G , CM000673.1:g.10503643A>G	GRCh37
NC_000011.8:g.10460219A>G	NCBI36
NG_012041.1:g.36420A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.460A>G MANE Select	NP_001020560.1:p.Ser154Gly
ENST00000396553.7:c.460A>G MANE Select	ENSP00000379801.2:p.Ser154Gly
NM_000480.2:c.487A>G	NP_000471.1:p.Ser163Gly
NM_000480.3:c.487A>G	NP_000471.1:p.Ser163Gly
NM_001025389.1:c.460A>G	NP_001020560.1:p.Ser154Gly
NM_001025390.1:c.481A>G	NP_001020561.1:p.Ser161Gly
NM_001025390.2:c.481A>G	NP_001020561.1:p.Ser161Gly
NM_001172430.1:c.460A>G	NP_001165901.1:p.Ser154Gly
NM_001172431.1:c.-18A>G	NP_001165902.1:n.-18A>G
NM_001172431.2:c.-18A>G	NP_001165902.1:n.-18A>G
ENST00000396553.6:c.460A>G	ENSP00000379801.2:p.Ser154Gly
ENST00000396554.7:c.487A>G	ENSP00000379802.3:p.Ser163Gly
ENST00000444303.6:c.-18A>G	ENSP00000396000.2:n.-18A>G
ENST00000524866.5:c.460A>G	ENSP00000433284.1:p.Ser154Gly
ENST00000528723.5:c.481A>G	ENSP00000436987.1:p.Ser161Gly
ENST00000529507.5:c.460A>G	ENSP00000431648.1:p.Ser154Gly
ENST00000529834.5:c.460A>G	ENSP00000435382.1:p.Ser154Gly
ENST00000529835.6:n.455A>G
ENST00000531227.1:n.214A>G
ENST00000534047.5:c.487A>G	ENSP00000433937.1:p.Ser163Gly