Canonical Allele Identifier: CA1190281975
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684364C= , CM000663.2:g.114684364C= GRCh38
NC_000001.10:g.115226985C= , CM000663.1:g.115226985C= GRCh37
NC_000001.9:g.115028508C= NCBI36
NG_008012.1:g.16192G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.370G= ENSP00000358551.4:p.Val124=
ENST00000520113.7:c.382G= MANE Select ENSP00000430075.3:p.Val128=
ENST00000637080.1:c.385G= ENSP00000489753.1:p.Val129=
ENST00000639077.1:n.47G=
ENST00000369538.3:c.469G= ENSP00000358551.3:p.Val157=
ENST00000485564.3:n.256G=
ENST00000520113.6:c.481G= ENSP00000430075.2:p.Val161=
NM_000036.2:c.481G= NP_000027.2:p.Val161=
NM_001172626.1:c.469G= NP_001166097.1:p.Val157=
NM_000036.3:c.382G= MANE Select NP_000027.3:p.Val128=
NM_001172626.2:c.370G= NP_001166097.2:p.Val124=