Canonical Allele Identifier: CA1143581691
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677994A= , CM000663.2:g.114677994A= GRCh38
NC_000001.10:g.115220615A= , CM000663.1:g.115220615A= GRCh37
NC_000001.9:g.115022138A= NCBI36
NG_008012.1:g.22562T=

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1128T= ENSP00000358551.4:p.Asn376=
ENST00000520113.7:c.1140T= MANE Select ENSP00000430075.3:p.Asn380=
ENST00000637080.1:c.923T= ENSP00000489753.1:n.923T=
ENST00000639077.1:n.805T=
ENST00000369538.3:c.1227T= ENSP00000358551.3:p.Asn409=
ENST00000520113.6:c.1239T= ENSP00000430075.2:p.Asn413=
NM_000036.2:c.1239T= NP_000027.2:p.Asn413=
NM_001172626.1:c.1227T= NP_001166097.1:p.Asn409=
NM_000036.3:c.1140T= MANE Select NP_000027.3:p.Asn380=
NM_001172626.2:c.1128T= NP_001166097.2:p.Asn376=