Canonical Allele Identifier: CA1190276302
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677435T= , CM000663.2:g.114677435T= GRCh38
NC_000001.10:g.115220056T= , CM000663.1:g.115220056T= GRCh37
NC_000001.9:g.115021579T= NCBI36
NG_008012.1:g.23121A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1292A= ENSP00000358551.4:p.Glu431=
ENST00000520113.7:c.1304A= MANE Select ENSP00000430075.3:p.Glu435=
ENST00000637080.1:c.1087A= ENSP00000489753.1:n.1087A=
ENST00000639077.1:n.969A=
ENST00000369538.3:c.1391A= ENSP00000358551.3:p.Glu464=
ENST00000520113.6:c.1403A= ENSP00000430075.2:p.Glu468=
NM_000036.2:c.1403A= NP_000027.2:p.Glu468=
NM_001172626.1:c.1391A= NP_001166097.1:p.Glu464=
NM_000036.3:c.1304A= MANE Select NP_000027.3:p.Glu435=
NM_001172626.2:c.1292A= NP_001166097.2:p.Glu431=