Canonical Allele Identifier: CA1190276620
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677989A= , CM000663.2:g.114677989A= GRCh38
NC_000001.10:g.115220610A= , CM000663.1:g.115220610A= GRCh37
NC_000001.9:g.115022133A= NCBI36
NG_008012.1:g.22567T=

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1133T= ENSP00000358551.4:p.Val378=
ENST00000520113.7:c.1145T= MANE Select ENSP00000430075.3:p.Val382=
ENST00000637080.1:c.928T= ENSP00000489753.1:n.928T=
ENST00000639077.1:n.810T=
ENST00000369538.3:c.1232T= ENSP00000358551.3:p.Val411=
ENST00000520113.6:c.1244T= ENSP00000430075.2:p.Val415=
NM_000036.2:c.1244T= NP_000027.2:p.Val415=
NM_001172626.1:c.1232T= NP_001166097.1:p.Val411=
NM_000036.3:c.1145T= MANE Select NP_000027.3:p.Val382=
NM_001172626.2:c.1133T= NP_001166097.2:p.Val378=