Canonical Allele Identifier: CA5883111

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10500217T>C , CM000673.2:g.10500217T>C	GRCh38
NC_000011.9:g.10521764T>C , CM000673.1:g.10521764T>C	GRCh37
NC_000011.8:g.10478340T>C	NCBI36
NG_012041.1:g.54541T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.1689T>C MANE Select	NP_001020560.1:p.Tyr563=
ENST00000396553.7:c.1689T>C MANE Select	ENSP00000379801.2:p.Tyr563=
NM_000480.2:c.1716T>C	NP_000471.1:p.Tyr572=
NM_000480.3:c.1716T>C	NP_000471.1:p.Tyr572=
NM_001025389.1:c.1689T>C	NP_001020560.1:p.Tyr563=
NM_001025390.1:c.1710T>C	NP_001020561.1:p.Tyr570=
NM_001025390.2:c.1710T>C	NP_001020561.1:p.Tyr570=
NM_001172430.1:c.1689T>C	NP_001165901.1:p.Tyr563=
NM_001172431.1:c.1212T>C	NP_001165902.1:p.Tyr404=
NM_001172431.2:c.1212T>C	NP_001165902.1:p.Tyr404=
ENST00000396553.6:c.1689T>C	ENSP00000379801.2:p.Tyr563=
ENST00000396554.7:c.1716T>C	ENSP00000379802.3:p.Tyr572=
ENST00000444303.6:c.1212T>C	ENSP00000396000.2:p.Tyr404=
ENST00000528723.5:c.1710T>C	ENSP00000436987.1:p.Tyr570=
ENST00000529507.5:c.1689T>C	ENSP00000431648.1:p.Tyr563=
ENST00000529744.1:c.33T>C	ENSP00000434608.1:p.Tyr11=
ENST00000529834.5:c.1689T>C	ENSP00000435382.1:p.Tyr563=
ENST00000530864.1:n.280T>C
ENST00000534047.5:c.*1042T>C	ENSP00000433937.1:n.*1042T>C