Canonical Allele Identifier: CA1190276595
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677922G= , CM000663.2:g.114677922G= GRCh38
NC_000001.10:g.115220543G= , CM000663.1:g.115220543G= GRCh37
NC_000001.9:g.115022066G= NCBI36
NG_008012.1:g.22634C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1200C= ENSP00000358551.4:p.Ala400=
ENST00000520113.7:c.1212C= MANE Select ENSP00000430075.3:p.Ala404=
ENST00000637080.1:c.995C= ENSP00000489753.1:n.995C=
ENST00000639077.1:n.877C=
ENST00000369538.3:c.1299C= ENSP00000358551.3:p.Ala433=
ENST00000520113.6:c.1311C= ENSP00000430075.2:p.Ala437=
NM_000036.2:c.1311C= NP_000027.2:p.Ala437=
NM_001172626.1:c.1299C= NP_001166097.1:p.Ala433=
NM_000036.3:c.1212C= MANE Select NP_000027.3:p.Ala404=
NM_001172626.2:c.1200C= NP_001166097.2:p.Ala400=