Canonical Allele Identifier: CA5883050

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10496894A>G , CM000673.2:g.10496894A>G	GRCh38
NC_000011.9:g.10518441A>G , CM000673.1:g.10518441A>G	GRCh37
NC_000011.8:g.10475017A>G	NCBI36
NG_012041.1:g.51218A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.1513A>G MANE Select	NP_001020560.1:p.Ile505Val
ENST00000396553.7:c.1513A>G MANE Select	ENSP00000379801.2:p.Ile505Val
NM_000480.2:c.1540A>G	NP_000471.1:p.Ile514Val
NM_000480.3:c.1540A>G	NP_000471.1:p.Ile514Val
NM_001025389.1:c.1513A>G	NP_001020560.1:p.Ile505Val
NM_001025390.1:c.1534A>G	NP_001020561.1:p.Ile512Val
NM_001025390.2:c.1534A>G	NP_001020561.1:p.Ile512Val
NM_001172430.1:c.1513A>G	NP_001165901.1:p.Ile505Val
NM_001172431.1:c.1036A>G	NP_001165902.1:p.Ile346Val
NM_001172431.2:c.1036A>G	NP_001165902.1:p.Ile346Val
ENST00000396553.6:c.1513A>G	ENSP00000379801.2:p.Ile505Val
ENST00000396554.7:c.1540A>G	ENSP00000379802.3:p.Ile514Val
ENST00000444303.6:c.1036A>G	ENSP00000396000.2:p.Ile346Val
ENST00000528723.5:c.1534A>G	ENSP00000436987.1:p.Ile512Val
ENST00000529507.5:c.1513A>G	ENSP00000431648.1:p.Ile505Val
ENST00000529834.5:c.1513A>G	ENSP00000435382.1:p.Ile505Val
ENST00000534047.5:c.*866A>G	ENSP00000433937.1:n.*866A>G