Canonical Allele Identifier: CA1190281947
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684340C= , CM000663.2:g.114684340C= GRCh38
NC_000001.10:g.115226961C= , CM000663.1:g.115226961C= GRCh37
NC_000001.9:g.115028484C= NCBI36
NG_008012.1:g.16216G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.394G= ENSP00000358551.4:p.Val132=
ENST00000520113.7:c.406G= MANE Select ENSP00000430075.3:p.Val136=
ENST00000637080.1:c.409G= ENSP00000489753.1:p.Val137=
ENST00000639077.1:n.71G=
ENST00000369538.3:c.493G= ENSP00000358551.3:p.Val165=
ENST00000485564.3:n.280G=
ENST00000520113.6:c.505G= ENSP00000430075.2:p.Val169=
NM_000036.2:c.505G= NP_000027.2:p.Val169=
NM_001172626.1:c.493G= NP_001166097.1:p.Val165=
NM_000036.3:c.406G= MANE Select NP_000027.3:p.Val136=
NM_001172626.2:c.394G= NP_001166097.2:p.Val132=