Canonical Allele Identifier: CA1190276306
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677448G= , CM000663.2:g.114677448G= GRCh38
NC_000001.10:g.115220069G= , CM000663.1:g.115220069G= GRCh37
NC_000001.9:g.115021592G= NCBI36
NG_008012.1:g.23108C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1279C= ENSP00000358551.4:p.Arg427=
ENST00000520113.7:c.1291C= MANE Select ENSP00000430075.3:p.Arg431=
ENST00000637080.1:c.1074C= ENSP00000489753.1:n.1074C=
ENST00000639077.1:n.956C=
ENST00000369538.3:c.1378C= ENSP00000358551.3:p.Arg460=
ENST00000520113.6:c.1390C= ENSP00000430075.2:p.Arg464=
NM_000036.2:c.1390C= NP_000027.2:p.Arg464=
NM_001172626.1:c.1378C= NP_001166097.1:p.Arg460=
NM_000036.3:c.1291C= MANE Select NP_000027.3:p.Arg431=
NM_001172626.2:c.1279C= NP_001166097.2:p.Arg427=