Canonical Allele Identifier: CA1148269336
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677985T= , CM000663.2:g.114677985T= GRCh38
NC_000001.10:g.115220606T= , CM000663.1:g.115220606T= GRCh37
NC_000001.9:g.115022129T= NCBI36
NG_008012.1:g.22571A=

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1137A= ENSP00000358551.4:p.Gly379=
ENST00000520113.7:c.1149A= MANE Select ENSP00000430075.3:p.Gly383=
ENST00000637080.1:n.932A= ENSP00000489753.1:n.932A=
ENST00000639077.1:n.814A=
ENST00000369538.3:c.1236A= ENSP00000358551.3:p.Gly412=
ENST00000520113.6:c.1248A= ENSP00000430075.2:p.Gly416=
NM_000036.2:c.1248A= NP_000027.2:p.Gly416=
NM_001172626.1:c.1236A= NP_001166097.1:p.Gly412=
NM_000036.3:c.1149A= MANE Select NP_000027.3:p.Gly383=
NM_001172626.2:c.1137A= NP_001166097.2:p.Gly379=