Canonical Allele Identifier: CA5882834

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10493400C>T , CM000673.2:g.10493400C>T	GRCh38
NC_000011.9:g.10514947C>T , CM000673.1:g.10514947C>T	GRCh37
NC_000011.8:g.10471523C>T	NCBI36
NG_012041.1:g.47724C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.991C>T MANE Select	NP_001020560.1:p.Arg331Cys
ENST00000396553.7:c.991C>T MANE Select	ENSP00000379801.2:p.Arg331Cys
NM_000480.2:c.1018C>T	NP_000471.1:p.Arg340Cys
NM_000480.3:c.1018C>T	NP_000471.1:p.Arg340Cys
NM_001025389.1:c.991C>T	NP_001020560.1:p.Arg331Cys
NM_001025390.1:c.1012C>T	NP_001020561.1:p.Arg338Cys
NM_001025390.2:c.1012C>T	NP_001020561.1:p.Arg338Cys
NM_001172430.1:c.991C>T	NP_001165901.1:p.Arg331Cys
NM_001172431.1:c.514C>T	NP_001165902.1:p.Arg172Cys
NM_001172431.2:c.514C>T	NP_001165902.1:p.Arg172Cys
ENST00000396553.6:c.991C>T	ENSP00000379801.2:p.Arg331Cys
ENST00000396554.7:c.1018C>T	ENSP00000379802.3:p.Arg340Cys
ENST00000444303.6:c.514C>T	ENSP00000396000.2:p.Arg172Cys
ENST00000528723.5:c.1012C>T	ENSP00000436987.1:p.Arg338Cys
ENST00000529507.5:c.991C>T	ENSP00000431648.1:p.Arg331Cys
ENST00000529834.5:c.991C>T	ENSP00000435382.1:p.Arg331Cys
ENST00000533116.1:c.34C>T	ENSP00000433351.1:p.Arg12Cys
ENST00000534047.5:c.*293C>T	ENSP00000433937.1:n.*293C>T