Canonical Allele Identifier: CA341748744
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677501T>C , CM000663.2:g.114677501T>C GRCh38
NC_000001.10:g.115220122T>C , CM000663.1:g.115220122T>C GRCh37
NC_000001.9:g.115021645T>C NCBI36
NG_008012.1:g.23055A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1226A>G ENSP00000358551.4:p.Asp409Gly
ENST00000520113.7:c.1238A>G MANE Select ENSP00000430075.3:p.Asp413Gly
ENST00000637080.1:c.1021A>G ENSP00000489753.1:n.1021A>G
ENST00000639077.1:n.903A>G
ENST00000369538.3:c.1325A>G ENSP00000358551.3:p.Asp442Gly
ENST00000520113.6:c.1337A>G ENSP00000430075.2:p.Asp446Gly
NM_000036.2:c.1337A>G NP_000027.2:p.Asp446Gly
NM_001172626.1:c.1325A>G NP_001166097.1:p.Asp442Gly
NM_000036.3:c.1238A>G MANE Select NP_000027.3:p.Asp413Gly
NM_001172626.2:c.1226A>G NP_001166097.2:p.Asp409Gly