Canonical Allele Identifier: CA1142116051
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114678022C= , CM000663.2:g.114678022C= GRCh38
NC_000001.10:g.115220643C= , CM000663.1:g.115220643C= GRCh37
NC_000001.9:g.115022166C= NCBI36
NG_008012.1:g.22534G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1100G= ENSP00000358551.4:p.Arg367=
ENST00000520113.7:c.1112G= MANE Select ENSP00000430075.3:p.Arg371=
ENST00000637080.1:c.895G= ENSP00000489753.1:n.895G=
ENST00000639077.1:n.777G=
ENST00000369538.3:c.1199G= ENSP00000358551.3:p.Arg400=
ENST00000520113.6:c.1211G= ENSP00000430075.2:p.Arg404=
NM_000036.2:c.1211G= NP_000027.2:p.Arg404=
NM_001172626.1:c.1199G= NP_001166097.1:p.Arg400=
NM_000036.3:c.1112G= MANE Select NP_000027.3:p.Arg371=
NM_001172626.2:c.1100G= NP_001166097.2:p.Arg367=