Canonical Allele Identifier: CA1140594123
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677972G= , CM000663.2:g.114677972G= GRCh38
NC_000001.10:g.115220593G= , CM000663.1:g.115220593G= GRCh37
NC_000001.9:g.115022116G= NCBI36
NG_008012.1:g.22584C=

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1150C= ENSP00000358551.4:p.Arg384=
ENST00000520113.7:c.1162C= MANE Select ENSP00000430075.3:p.Arg388=
ENST00000637080.1:n.945C= ENSP00000489753.1:n.945C=
ENST00000639077.1:n.827C=
ENST00000369538.3:c.1249C= ENSP00000358551.3:p.Arg417=
ENST00000520113.6:c.1261C= ENSP00000430075.2:p.Arg421=
NM_000036.2:c.1261C= NP_000027.2:p.Arg421=
NM_001172626.1:c.1249C= NP_001166097.1:p.Arg417=
NM_000036.3:c.1162C= MANE Select NP_000027.3:p.Arg388=
NM_001172626.2:c.1150C= NP_001166097.2:p.Arg384=