Canonical Allele Identifier: CA1190276307
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677453T= , CM000663.2:g.114677453T= GRCh38
NC_000001.10:g.115220074T= , CM000663.1:g.115220074T= GRCh37
NC_000001.9:g.115021597T= NCBI36
NG_008012.1:g.23103A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1274A= ENSP00000358551.4:p.Tyr425=
ENST00000520113.7:c.1286A= MANE Select ENSP00000430075.3:p.Tyr429=
ENST00000637080.1:c.1069A= ENSP00000489753.1:n.1069A=
ENST00000639077.1:n.951A=
ENST00000369538.3:c.1373A= ENSP00000358551.3:p.Tyr458=
ENST00000520113.6:c.1385A= ENSP00000430075.2:p.Tyr462=
NM_000036.2:c.1385A= NP_000027.2:p.Tyr462=
NM_001172626.1:c.1373A= NP_001166097.1:p.Tyr458=
NM_000036.3:c.1286A= MANE Select NP_000027.3:p.Tyr429=
NM_001172626.2:c.1274A= NP_001166097.2:p.Tyr425=