Canonical Allele Identifier: CA10629755

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10482121G>A , CM000673.2:g.10482121G>A	GRCh38
NC_000011.9:g.10503668G>A , CM000673.1:g.10503668G>A	GRCh37
NC_000011.8:g.10460244G>A	NCBI36
NG_012041.1:g.36445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.485G>A MANE Select	NP_001020560.1:p.Arg162Gln
ENST00000396553.7:c.485G>A MANE Select	ENSP00000379801.2:p.Arg162Gln
NM_000480.2:c.512G>A	NP_000471.1:p.Arg171Gln
NM_000480.3:c.512G>A	NP_000471.1:p.Arg171Gln
NM_001025389.1:c.485G>A	NP_001020560.1:p.Arg162Gln
NM_001025390.1:c.506G>A	NP_001020561.1:p.Arg169Gln
NM_001025390.2:c.506G>A	NP_001020561.1:p.Arg169Gln
NM_001172430.1:c.485G>A	NP_001165901.1:p.Arg162Gln
NM_001172431.1:c.8G>A	NP_001165902.1:p.Arg3Gln
NM_001172431.2:c.8G>A	NP_001165902.1:p.Arg3Gln
ENST00000396553.6:c.485G>A	ENSP00000379801.2:p.Arg162Gln
ENST00000396554.7:c.512G>A	ENSP00000379802.3:p.Arg171Gln
ENST00000444303.6:c.8G>A	ENSP00000396000.2:p.Arg3Gln
ENST00000524866.5:c.485G>A	ENSP00000433284.1:p.Arg162Gln
ENST00000528723.5:c.506G>A	ENSP00000436987.1:p.Arg169Gln
ENST00000529507.5:c.485G>A	ENSP00000431648.1:p.Arg162Gln
ENST00000529834.5:c.485G>A	ENSP00000435382.1:p.Arg162Gln
ENST00000529835.6:n.480G>A
ENST00000531227.1:n.239G>A
ENST00000534047.5:c.512G>A	ENSP00000433937.1:p.Arg171Gln