Canonical Allele Identifier: CA1190276285
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677399C= , CM000663.2:g.114677399C= GRCh38
NC_000001.10:g.115220020C= , CM000663.1:g.115220020C= GRCh37
NC_000001.9:g.115021543C= NCBI36
NG_008012.1:g.23157G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1328G= ENSP00000358551.4:p.Arg443=
ENST00000520113.7:c.1340G= MANE Select ENSP00000430075.3:p.Arg447=
ENST00000637080.1:c.1123G= ENSP00000489753.1:n.1123G=
ENST00000639077.1:n.1005G=
ENST00000369538.3:c.1427G= ENSP00000358551.3:p.Arg476=
ENST00000520113.6:c.1439G= ENSP00000430075.2:p.Arg480=
NM_000036.2:c.1439G= NP_000027.2:p.Arg480=
NM_001172626.1:c.1427G= NP_001166097.1:p.Arg476=
NM_000036.3:c.1340G= MANE Select NP_000027.3:p.Arg447=
NM_001172626.2:c.1328G= NP_001166097.2:p.Arg443=