Canonical Allele Identifier: CA5882657

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10482136G>T , CM000673.2:g.10482136G>T	GRCh38
NC_000011.9:g.10503683G>T , CM000673.1:g.10503683G>T	GRCh37
NC_000011.8:g.10460259G>T	NCBI36
NG_012041.1:g.36460G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.500G>T MANE Select	NP_001020560.1:p.Arg167Leu
ENST00000396553.7:c.500G>T MANE Select	ENSP00000379801.2:p.Arg167Leu
NM_000480.2:c.527G>T	NP_000471.1:p.Arg176Leu
NM_000480.3:c.527G>T	NP_000471.1:p.Arg176Leu
NM_001025389.1:c.500G>T	NP_001020560.1:p.Arg167Leu
NM_001025390.1:c.521G>T	NP_001020561.1:p.Arg174Leu
NM_001025390.2:c.521G>T	NP_001020561.1:p.Arg174Leu
NM_001172430.1:c.500G>T	NP_001165901.1:p.Arg167Leu
NM_001172431.1:c.23G>T	NP_001165902.1:p.Arg8Leu
NM_001172431.2:c.23G>T	NP_001165902.1:p.Arg8Leu
ENST00000396553.6:c.500G>T	ENSP00000379801.2:p.Arg167Leu
ENST00000396554.7:c.527G>T	ENSP00000379802.3:p.Arg176Leu
ENST00000444303.6:c.23G>T	ENSP00000396000.2:p.Arg8Leu
ENST00000524866.5:c.500G>T	ENSP00000433284.1:p.Arg167Leu
ENST00000528723.5:c.521G>T	ENSP00000436987.1:p.Arg174Leu
ENST00000529507.5:c.500G>T	ENSP00000431648.1:p.Arg167Leu
ENST00000529834.5:c.500G>T	ENSP00000435382.1:p.Arg167Leu
ENST00000529835.6:n.495G>T
ENST00000531227.1:n.254G>T
ENST00000534047.5:c.527G>T	ENSP00000433937.1:p.Arg176Leu