Canonical Allele Identifier: CA2574035254
Gene: AMPD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684186A>T , CM000663.2:g.114684186A>T GRCh38
NC_000001.10:g.115226807A>T , CM000663.1:g.115226807A>T GRCh37
NC_000001.9:g.115028330A>T NCBI36
NG_008012.1:g.16370T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.535+13T>A ENSP00000358551.4:n.535+13T>A
ENST00000520113.7:c.547+13T>A MANE Select ENSP00000430075.3:n.547+13T>A
ENST00000637080.1:c.550+13T>A ENSP00000489753.1:n.550+13T>A
ENST00000639077.1:n.212+13T>A
ENST00000369538.3:c.634+13T>A ENSP00000358551.3:n.634+13T>A
ENST00000485564.3:n.421+13T>A
ENST00000520113.6:c.646+13T>A ENSP00000430075.2:n.646+13T>A
NM_000036.2:c.646+13T>A NP_000027.2:n.646+13T>A
NM_001172626.1:c.634+13T>A NP_001166097.1:n.634+13T>A
NM_000036.3:c.547+13T>A MANE Select NP_000027.3:n.547+13T>A
NM_001172626.2:c.535+13T>A NP_001166097.2:n.535+13T>A
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