Canonical Allele Identifier: CA1190276286
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677400G= , CM000663.2:g.114677400G= GRCh38
NC_000001.10:g.115220021G= , CM000663.1:g.115220021G= GRCh37
NC_000001.9:g.115021544G= NCBI36
NG_008012.1:g.23156C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1327C= ENSP00000358551.4:p.Arg443=
ENST00000520113.7:c.1339C= MANE Select ENSP00000430075.3:p.Arg447=
ENST00000637080.1:c.1122C= ENSP00000489753.1:n.1122C=
ENST00000639077.1:n.1004C=
ENST00000369538.3:c.1426C= ENSP00000358551.3:p.Arg476=
ENST00000520113.6:c.1438C= ENSP00000430075.2:p.Arg480=
NM_000036.2:c.1438C= NP_000027.2:p.Arg480=
NM_001172626.1:c.1426C= NP_001166097.1:p.Arg476=
NM_000036.3:c.1339C= MANE Select NP_000027.3:p.Arg447=
NM_001172626.2:c.1327C= NP_001166097.2:p.Arg443=