Canonical Allele Identifier: CA1146213198
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677512C= , CM000663.2:g.114677512C= GRCh38
NC_000001.10:g.115220133C= , CM000663.1:g.115220133C= GRCh37
NC_000001.9:g.115021656C= NCBI36
NG_008012.1:g.23044G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1215G= ENSP00000358551.4:p.Glu405=
ENST00000520113.7:c.1227G= MANE Select ENSP00000430075.3:p.Glu409=
ENST00000637080.1:c.1010G= ENSP00000489753.1:n.1010G=
ENST00000639077.1:n.892G=
ENST00000369538.3:c.1314G= ENSP00000358551.3:p.Glu438=
ENST00000520113.6:c.1326G= ENSP00000430075.2:p.Glu442=
NM_000036.2:c.1326G= NP_000027.2:p.Glu442=
NM_001172626.1:c.1314G= NP_001166097.1:p.Glu438=
NM_000036.3:c.1227G= MANE Select NP_000027.3:p.Glu409=
NM_001172626.2:c.1215G= NP_001166097.2:p.Glu405=