Canonical Allele Identifier: CA1190276615
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677978C= , CM000663.2:g.114677978C= GRCh38
NC_000001.10:g.115220599C= , CM000663.1:g.115220599C= GRCh37
NC_000001.9:g.115022122C= NCBI36
NG_008012.1:g.22578G=

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1144G= ENSP00000358551.4:p.Glu382=
ENST00000520113.7:c.1156G= MANE Select ENSP00000430075.3:p.Glu386=
ENST00000637080.1:n.939G= ENSP00000489753.1:n.939G=
ENST00000639077.1:n.821G=
ENST00000369538.3:c.1243G= ENSP00000358551.3:p.Glu415=
ENST00000520113.6:c.1255G= ENSP00000430075.2:p.Glu419=
NM_000036.2:c.1255G= NP_000027.2:p.Glu419=
NM_001172626.1:c.1243G= NP_001166097.1:p.Glu415=
NM_000036.3:c.1156G= MANE Select NP_000027.3:p.Glu386=
NM_001172626.2:c.1144G= NP_001166097.2:p.Glu382=