Canonical Allele Identifier: CA5882775

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10487261A>G , CM000673.2:g.10487261A>G	GRCh38
NC_000011.9:g.10508808A>G , CM000673.1:g.10508808A>G	GRCh37
NC_000011.8:g.10465384A>G	NCBI36
NG_012041.1:g.41585A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.836A>G MANE Select	NP_001020560.1:p.Asn279Ser
ENST00000396553.7:c.836A>G MANE Select	ENSP00000379801.2:p.Asn279Ser
NM_000480.2:c.863A>G	NP_000471.1:p.Asn288Ser
NM_000480.3:c.863A>G	NP_000471.1:p.Asn288Ser
NM_001025389.1:c.836A>G	NP_001020560.1:p.Asn279Ser
NM_001025390.1:c.857A>G	NP_001020561.1:p.Asn286Ser
NM_001025390.2:c.857A>G	NP_001020561.1:p.Asn286Ser
NM_001172430.1:c.836A>G	NP_001165901.1:p.Asn279Ser
NM_001172431.1:c.359A>G	NP_001165902.1:p.Asn120Ser
NM_001172431.2:c.359A>G	NP_001165902.1:p.Asn120Ser
ENST00000396553.6:c.836A>G	ENSP00000379801.2:p.Asn279Ser
ENST00000396554.7:c.863A>G	ENSP00000379802.3:p.Asn288Ser
ENST00000444303.6:c.359A>G	ENSP00000396000.2:p.Asn120Ser
ENST00000528723.5:c.857A>G	ENSP00000436987.1:p.Asn286Ser
ENST00000529507.5:c.836A>G	ENSP00000431648.1:p.Asn279Ser
ENST00000529834.5:c.836A>G	ENSP00000435382.1:p.Asn279Ser
ENST00000534047.5:c.*138A>G	ENSP00000433937.1:n.*138A>G