Canonical Allele Identifier: CA1190281742
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684214C= , CM000663.2:g.114684214C= GRCh38
NC_000001.10:g.115226835C= , CM000663.1:g.115226835C= GRCh37
NC_000001.9:g.115028358C= NCBI36
NG_008012.1:g.16342G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.520G= ENSP00000358551.4:p.Glu174=
ENST00000520113.7:c.532G= MANE Select ENSP00000430075.3:p.Glu178=
ENST00000637080.1:c.535G= ENSP00000489753.1:p.Glu179=
ENST00000639077.1:n.197G=
ENST00000369538.3:c.619G= ENSP00000358551.3:p.Glu207=
ENST00000485564.3:n.406G=
ENST00000520113.6:c.631G= ENSP00000430075.2:p.Glu211=
NM_000036.2:c.631G= NP_000027.2:p.Glu211=
NM_001172626.1:c.619G= NP_001166097.1:p.Glu207=
NM_000036.3:c.532G= MANE Select NP_000027.3:p.Glu178=
NM_001172626.2:c.520G= NP_001166097.2:p.Glu174=