Canonical Allele Identifier: CA5882718

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10484899C>T , CM000673.2:g.10484899C>T	GRCh38
NC_000011.9:g.10506446C>T , CM000673.1:g.10506446C>T	GRCh37
NC_000011.8:g.10463022C>T	NCBI36
NG_012041.1:g.39223C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.669C>T MANE Select	NP_001020560.1:p.His223=
ENST00000396553.7:c.669C>T MANE Select	ENSP00000379801.2:p.His223=
NM_000480.2:c.696C>T	NP_000471.1:p.His232=
NM_000480.3:c.696C>T	NP_000471.1:p.His232=
NM_001025389.1:c.669C>T	NP_001020560.1:p.His223=
NM_001025390.1:c.690C>T	NP_001020561.1:p.His230=
NM_001025390.2:c.690C>T	NP_001020561.1:p.His230=
NM_001172430.1:c.669C>T	NP_001165901.1:p.His223=
NM_001172431.1:c.192C>T	NP_001165902.1:p.His64=
NM_001172431.2:c.192C>T	NP_001165902.1:p.His64=
ENST00000396553.6:c.669C>T	ENSP00000379801.2:p.His223=
ENST00000396554.7:c.696C>T	ENSP00000379802.3:p.His232=
ENST00000444303.6:c.192C>T	ENSP00000396000.2:p.His64=
ENST00000524866.5:c.669C>T	ENSP00000433284.1:p.His223=
ENST00000528723.5:c.690C>T	ENSP00000436987.1:p.His230=
ENST00000529507.5:c.669C>T	ENSP00000431648.1:p.His223=
ENST00000529834.5:c.669C>T	ENSP00000435382.1:p.His223=
ENST00000531227.1:n.423C>T
ENST00000534047.5:c.617-7C>T	ENSP00000433937.1:n.617-7C>T