Canonical Allele Identifier: CA2574035257
Gene: AMPD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684420G>T , CM000663.2:g.114684420G>T GRCh38
NC_000001.10:g.115227041G>T , CM000663.1:g.115227041G>T GRCh37
NC_000001.9:g.115028564G>T NCBI36
NG_008012.1:g.16136C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.370-56C>A ENSP00000358551.4:n.370-56C>A
ENST00000520113.7:c.382-56C>A MANE Select ENSP00000430075.3:n.382-56C>A
ENST00000637080.1:c.385-56C>A ENSP00000489753.1:n.385-56C>A
ENST00000639077.1:n.46+24C>A
ENST00000369538.3:c.469-56C>A ENSP00000358551.3:n.469-56C>A
ENST00000485564.3:n.256-56C>A
ENST00000520113.6:c.481-56C>A ENSP00000430075.2:n.481-56C>A
NM_000036.2:c.481-56C>A NP_000027.2:n.481-56C>A
NM_001172626.1:c.469-56C>A NP_001166097.1:n.469-56C>A
NM_000036.3:c.382-56C>A MANE Select NP_000027.3:n.382-56C>A
NM_001172626.2:c.370-56C>A NP_001166097.2:n.370-56C>A
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