Canonical Allele Identifier: CA5882833

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10493383A>G , CM000673.2:g.10493383A>G	GRCh38
NC_000011.9:g.10514930A>G , CM000673.1:g.10514930A>G	GRCh37
NC_000011.8:g.10471506A>G	NCBI36
NG_012041.1:g.47707A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.974A>G MANE Select	NP_001020560.1:p.Asn325Ser
ENST00000396553.7:c.974A>G MANE Select	ENSP00000379801.2:p.Asn325Ser
NM_000480.2:c.1001A>G	NP_000471.1:p.Asn334Ser
NM_000480.3:c.1001A>G	NP_000471.1:p.Asn334Ser
NM_001025389.1:c.974A>G	NP_001020560.1:p.Asn325Ser
NM_001025390.1:c.995A>G	NP_001020561.1:p.Asn332Ser
NM_001025390.2:c.995A>G	NP_001020561.1:p.Asn332Ser
NM_001172430.1:c.974A>G	NP_001165901.1:p.Asn325Ser
NM_001172431.1:c.497A>G	NP_001165902.1:p.Asn166Ser
NM_001172431.2:c.497A>G	NP_001165902.1:p.Asn166Ser
ENST00000396553.6:c.974A>G	ENSP00000379801.2:p.Asn325Ser
ENST00000396554.7:c.1001A>G	ENSP00000379802.3:p.Asn334Ser
ENST00000444303.6:c.497A>G	ENSP00000396000.2:p.Asn166Ser
ENST00000528723.5:c.995A>G	ENSP00000436987.1:p.Asn332Ser
ENST00000529507.5:c.974A>G	ENSP00000431648.1:p.Asn325Ser
ENST00000529834.5:c.974A>G	ENSP00000435382.1:p.Asn325Ser
ENST00000533116.1:c.17A>G	ENSP00000433351.1:p.Asn6Ser
ENST00000534047.5:c.*276A>G	ENSP00000433937.1:n.*276A>G