Canonical Allele Identifier: CA1190276308
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677456A= , CM000663.2:g.114677456A= GRCh38
NC_000001.10:g.115220077A= , CM000663.1:g.115220077A= GRCh37
NC_000001.9:g.115021600A= NCBI36
NG_008012.1:g.23100T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1271T= ENSP00000358551.4:p.Ile424=
ENST00000520113.7:c.1283T= MANE Select ENSP00000430075.3:p.Ile428=
ENST00000637080.1:c.1066T= ENSP00000489753.1:n.1066T=
ENST00000639077.1:n.948T=
ENST00000369538.3:c.1370T= ENSP00000358551.3:p.Ile457=
ENST00000520113.6:c.1382T= ENSP00000430075.2:p.Ile461=
NM_000036.2:c.1382T= NP_000027.2:p.Ile461=
NM_001172626.1:c.1370T= NP_001166097.1:p.Ile457=
NM_000036.3:c.1283T= MANE Select NP_000027.3:p.Ile428=
NM_001172626.2:c.1271T= NP_001166097.2:p.Ile424=