Canonical Allele Identifier: CA5882638

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10482095G>A , CM000673.2:g.10482095G>A	GRCh38
NC_000011.9:g.10503642G>A , CM000673.1:g.10503642G>A	GRCh37
NC_000011.8:g.10460218G>A	NCBI36
NG_012041.1:g.36419G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.459G>A MANE Select	NP_001020560.1:p.Lys153=
ENST00000396553.7:c.459G>A MANE Select	ENSP00000379801.2:p.Lys153=
NM_000480.2:c.486G>A	NP_000471.1:p.Lys162=
NM_000480.3:c.486G>A	NP_000471.1:p.Lys162=
NM_001025389.1:c.459G>A	NP_001020560.1:p.Lys153=
NM_001025390.1:c.480G>A	NP_001020561.1:p.Lys160=
NM_001025390.2:c.480G>A	NP_001020561.1:p.Lys160=
NM_001172430.1:c.459G>A	NP_001165901.1:p.Lys153=
NM_001172431.1:c.-19G>A	NP_001165902.1:n.-19G>A
NM_001172431.2:c.-19G>A	NP_001165902.1:n.-19G>A
ENST00000396553.6:c.459G>A	ENSP00000379801.2:p.Lys153=
ENST00000396554.7:c.486G>A	ENSP00000379802.3:p.Lys162=
ENST00000444303.6:c.-19G>A	ENSP00000396000.2:n.-19G>A
ENST00000524866.5:c.459G>A	ENSP00000433284.1:p.Lys153=
ENST00000528723.5:c.480G>A	ENSP00000436987.1:p.Lys160=
ENST00000529507.5:c.459G>A	ENSP00000431648.1:p.Lys153=
ENST00000529834.5:c.459G>A	ENSP00000435382.1:p.Lys153=
ENST00000529835.6:n.454G>A
ENST00000531227.1:n.213G>A
ENST00000534047.5:c.486G>A	ENSP00000433937.1:p.Lys162=