Canonical Allele Identifier: CA1143698227
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684322G= , CM000663.2:g.114684322G= GRCh38
NC_000001.10:g.115226943G= , CM000663.1:g.115226943G= GRCh37
NC_000001.9:g.115028466G= NCBI36
NG_008012.1:g.16234C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.412C= ENSP00000358551.4:p.Arg138=
ENST00000520113.7:c.424C= MANE Select ENSP00000430075.3:p.Arg142=
ENST00000637080.1:c.427C= ENSP00000489753.1:p.Arg143=
ENST00000639077.1:n.89C=
ENST00000369538.3:c.511C= ENSP00000358551.3:p.Arg171=
ENST00000485564.3:n.298C=
ENST00000520113.6:c.523C= ENSP00000430075.2:p.Arg175=
NM_000036.2:c.523C= NP_000027.2:p.Arg175=
NM_001172626.1:c.511C= NP_001166097.1:p.Arg171=
NM_000036.3:c.424C= MANE Select NP_000027.3:p.Arg142=
NM_001172626.2:c.412C= NP_001166097.2:p.Arg138=