Canonical Allele Identifier: CA1190276593
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677918T= , CM000663.2:g.114677918T= GRCh38
NC_000001.10:g.115220539T= , CM000663.1:g.115220539T= GRCh37
NC_000001.9:g.115022062T= NCBI36
NG_008012.1:g.22638A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1204A= ENSP00000358551.4:p.Ile402=
ENST00000520113.7:c.1216A= MANE Select ENSP00000430075.3:p.Ile406=
ENST00000637080.1:c.999A= ENSP00000489753.1:n.999A=
ENST00000639077.1:n.881A=
ENST00000369538.3:c.1303A= ENSP00000358551.3:p.Ile435=
ENST00000520113.6:c.1315A= ENSP00000430075.2:p.Ile439=
NM_000036.2:c.1315A= NP_000027.2:p.Ile439=
NM_001172626.1:c.1303A= NP_001166097.1:p.Ile435=
NM_000036.3:c.1216A= MANE Select NP_000027.3:p.Ile406=
NM_001172626.2:c.1204A= NP_001166097.2:p.Ile402=