Canonical Allele Identifier: CA5882870

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10493540C>T , CM000673.2:g.10493540C>T	GRCh38
NC_000011.9:g.10515087C>T , CM000673.1:g.10515087C>T	GRCh37
NC_000011.8:g.10471663C>T	NCBI36
NG_012041.1:g.47864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396553.7:c.1131C>T MANE Select	ENSP00000379801.2:p.His377=
ENST00000396553.6:c.1131C>T	ENSP00000379801.2:p.His377=
ENST00000396554.7:c.1158C>T	ENSP00000379802.3:p.His386=
ENST00000444303.6:c.654C>T	ENSP00000396000.2:p.His218=
ENST00000528723.5:c.1152C>T	ENSP00000436987.1:p.His384=
ENST00000529507.5:c.1131C>T	ENSP00000431648.1:p.His377=
ENST00000529834.5:c.1131C>T	ENSP00000435382.1:p.His377=
ENST00000533116.1:c.174C>T	ENSP00000433351.1:p.His58=
ENST00000534047.5:c.*433C>T	ENSP00000433937.1:n.*433C>T
NM_000480.2:c.1158C>T	NP_000471.1:p.His386=
NM_001025389.1:c.1131C>T	NP_001020560.1:p.His377=
NM_001025390.1:c.1152C>T	NP_001020561.1:p.His384=
NM_001172430.1:c.1131C>T	NP_001165901.1:p.His377=
NM_001172431.1:c.654C>T	NP_001165902.1:p.His218=
NM_000480.3:c.1158C>T	NP_000471.1:p.His386=
NM_001025389.2:c.1131C>T MANE Select	NP_001020560.1:p.His377=
NM_001025390.2:c.1152C>T	NP_001020561.1:p.His384=
NM_001172431.2:c.654C>T	NP_001165902.1:p.His218=