Canonical Allele Identifier: CA5882611

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10478738G>A , CM000673.2:g.10478738G>A	GRCh38
NC_000011.9:g.10500285G>A , CM000673.1:g.10500285G>A	GRCh37
NC_000011.8:g.10456861G>A	NCBI36
NG_012041.1:g.33062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396553.7:c.426+8G>A MANE Select	ENSP00000379801.2:n.426+8G>A
ENST00000396553.6:c.426+8G>A	ENSP00000379801.2:n.426+8G>A
ENST00000396554.7:c.453+8G>A	ENSP00000379802.3:n.453+8G>A
ENST00000444303.6:c.-51-3325G>A	ENSP00000396000.2:n.-51-3325G>A
ENST00000524866.5:c.426+8G>A	ENSP00000433284.1:n.426+8G>A
ENST00000528723.5:c.447+8G>A	ENSP00000436987.1:n.447+8G>A
ENST00000529507.5:c.426+8G>A	ENSP00000431648.1:n.426+8G>A
ENST00000529834.5:c.426+8G>A	ENSP00000435382.1:n.426+8G>A
ENST00000529835.6:n.422-3325G>A
ENST00000534047.5:c.453+8G>A	ENSP00000433937.1:n.453+8G>A
NM_000480.2:c.453+8G>A	NP_000471.1:n.453+8G>A
NM_001025389.1:c.426+8G>A	NP_001020560.1:n.426+8G>A
NM_001025390.1:c.447+8G>A	NP_001020561.1:n.447+8G>A
NM_001172430.1:c.426+8G>A	NP_001165901.1:n.426+8G>A
NM_001172431.1:c.-51-3325G>A	NP_001165902.1:n.-51-3325G>A
NM_000480.3:c.453+8G>A	NP_000471.1:n.453+8G>A
NM_001025389.2:c.426+8G>A MANE Select	NP_001020560.1:n.426+8G>A
NM_001025390.2:c.447+8G>A	NP_001020561.1:n.447+8G>A
NM_001172431.2:c.-51-3325G>A	NP_001165902.1:n.-51-3325G>A