Canonical Allele Identifier: CA5883168

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10501519G>A , CM000673.2:g.10501519G>A	GRCh38
NC_000011.9:g.10523066G>A , CM000673.1:g.10523066G>A	GRCh37
NC_000011.8:g.10479642G>A	NCBI36
NG_012041.1:g.55843G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.1771G>A MANE Select	NP_001020560.1:p.Gly591Ser
ENST00000396553.7:c.1771G>A MANE Select	ENSP00000379801.2:p.Gly591Ser
NM_000480.2:c.1798G>A	NP_000471.1:p.Gly600Ser
NM_000480.3:c.1798G>A	NP_000471.1:p.Gly600Ser
NM_001025389.1:c.1771G>A	NP_001020560.1:p.Gly591Ser
NM_001025390.1:c.1792G>A	NP_001020561.1:p.Gly598Ser
NM_001025390.2:c.1792G>A	NP_001020561.1:p.Gly598Ser
NM_001172430.1:c.1771G>A	NP_001165901.1:p.Gly591Ser
NM_001172431.1:c.1294G>A	NP_001165902.1:p.Gly432Ser
NM_001172431.2:c.1294G>A	NP_001165902.1:p.Gly432Ser
ENST00000396553.6:c.1771G>A	ENSP00000379801.2:p.Gly591Ser
ENST00000396554.7:c.1798G>A	ENSP00000379802.3:p.Gly600Ser
ENST00000444303.6:c.1294G>A	ENSP00000396000.2:p.Gly432Ser
ENST00000528723.5:c.1792G>A	ENSP00000436987.1:p.Gly598Ser
ENST00000529507.5:c.1771G>A	ENSP00000431648.1:p.Gly591Ser
ENST00000529744.1:c.115G>A	ENSP00000434608.1:p.Gly39Ser
ENST00000529834.5:c.1771G>A	ENSP00000435382.1:p.Gly591Ser
ENST00000530864.1:n.362G>A
ENST00000534047.5:c.*1124G>A	ENSP00000433937.1:n.*1124G>A