Canonical Allele Identifier: CA341748947
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677911T>C , CM000663.2:g.114677911T>C GRCh38
NC_000001.10:g.115220532T>C , CM000663.1:g.115220532T>C GRCh37
NC_000001.9:g.115022055T>C NCBI36
NG_008012.1:g.22645A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1211A>G ENSP00000358551.4:p.Lys404Arg
ENST00000520113.7:c.1223A>G MANE Select ENSP00000430075.3:p.Lys408Arg
ENST00000637080.1:n.1006A>G ENSP00000489753.1:n.1006A>G
ENST00000639077.1:n.888A>G
ENST00000369538.3:c.1310A>G ENSP00000358551.3:p.Lys437Arg
ENST00000520113.6:c.1322A>G ENSP00000430075.2:p.Lys441Arg
NM_000036.2:c.1322A>G NP_000027.2:p.Lys441Arg
NM_001172626.1:c.1310A>G NP_001166097.1:p.Lys437Arg
NM_000036.3:c.1223A>G MANE Select NP_000027.3:p.Lys408Arg
NM_001172626.2:c.1211A>G NP_001166097.2:p.Lys404Arg