Canonical Allele Identifier: CA1190276591
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677914A= , CM000663.2:g.114677914A= GRCh38
NC_000001.10:g.115220535A= , CM000663.1:g.115220535A= GRCh37
NC_000001.9:g.115022058A= NCBI36
NG_008012.1:g.22642T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1208T= ENSP00000358551.4:p.Ile403=
ENST00000520113.7:c.1220T= MANE Select ENSP00000430075.3:p.Ile407=
ENST00000637080.1:c.1003T= ENSP00000489753.1:n.1003T=
ENST00000639077.1:n.885T=
ENST00000369538.3:c.1307T= ENSP00000358551.3:p.Ile436=
ENST00000520113.6:c.1319T= ENSP00000430075.2:p.Ile440=
NM_000036.2:c.1319T= NP_000027.2:p.Ile440=
NM_001172626.1:c.1307T= NP_001166097.1:p.Ile436=
NM_000036.3:c.1220T= MANE Select NP_000027.3:p.Ile407=
NM_001172626.2:c.1208T= NP_001166097.2:p.Ile403=