Canonical Allele Identifier: CA1190276600
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677932T= , CM000663.2:g.114677932T= GRCh38
NC_000001.10:g.115220553T= , CM000663.1:g.115220553T= GRCh37
NC_000001.9:g.115022076T= NCBI36
NG_008012.1:g.22624A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1190A= ENSP00000358551.4:p.Glu397=
ENST00000520113.7:c.1202A= MANE Select ENSP00000430075.3:p.Glu401=
ENST00000637080.1:c.985A= ENSP00000489753.1:n.985A=
ENST00000639077.1:n.867A=
ENST00000369538.3:c.1289A= ENSP00000358551.3:p.Glu430=
ENST00000520113.6:c.1301A= ENSP00000430075.2:p.Glu434=
NM_000036.2:c.1301A= NP_000027.2:p.Glu434=
NM_001172626.1:c.1289A= NP_001166097.1:p.Glu430=
NM_000036.3:c.1202A= MANE Select NP_000027.3:p.Glu401=
NM_001172626.2:c.1190A= NP_001166097.2:p.Glu397=