Canonical Allele Identifier: CA1190276616
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677983G= , CM000663.2:g.114677983G= GRCh38
NC_000001.10:g.115220604G= , CM000663.1:g.115220604G= GRCh37
NC_000001.9:g.115022127G= NCBI36
NG_008012.1:g.22573C=

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1139C= ENSP00000358551.4:p.Ala380=
ENST00000520113.7:c.1151C= MANE Select ENSP00000430075.3:p.Ala384=
ENST00000637080.1:n.934C= ENSP00000489753.1:n.934C=
ENST00000639077.1:n.816C=
ENST00000369538.3:c.1238C= ENSP00000358551.3:p.Ala413=
ENST00000520113.6:c.1250C= ENSP00000430075.2:p.Ala417=
NM_000036.2:c.1250C= NP_000027.2:p.Ala417=
NM_001172626.1:c.1238C= NP_001166097.1:p.Ala413=
NM_000036.3:c.1151C= MANE Select NP_000027.3:p.Ala384=
NM_001172626.2:c.1139C= NP_001166097.2:p.Ala380=