Canonical Allele Identifier: CA1190281755
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684223C= , CM000663.2:g.114684223C= GRCh38
NC_000001.10:g.115226844C= , CM000663.1:g.115226844C= GRCh37
NC_000001.9:g.115028367C= NCBI36
NG_008012.1:g.16333G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.511G= ENSP00000358551.4:p.Val171=
ENST00000520113.7:c.523G= MANE Select ENSP00000430075.3:p.Val175=
ENST00000637080.1:c.526G= ENSP00000489753.1:p.Val176=
ENST00000639077.1:n.188G=
ENST00000369538.3:c.610G= ENSP00000358551.3:p.Val204=
ENST00000485564.3:n.397G=
ENST00000520113.6:c.622G= ENSP00000430075.2:p.Val208=
NM_000036.2:c.622G= NP_000027.2:p.Val208=
NM_001172626.1:c.610G= NP_001166097.1:p.Val204=
NM_000036.3:c.523G= MANE Select NP_000027.3:p.Val175=
NM_001172626.2:c.511G= NP_001166097.2:p.Val171=