Canonical Allele Identifier: CA1190276303
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677437A= , CM000663.2:g.114677437A= GRCh38
NC_000001.10:g.115220058A= , CM000663.1:g.115220058A= GRCh37
NC_000001.9:g.115021581A= NCBI36
NG_008012.1:g.23119T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1290T= ENSP00000358551.4:p.Asp430=
ENST00000520113.7:c.1302T= MANE Select ENSP00000430075.3:p.Asp434=
ENST00000637080.1:c.1085T= ENSP00000489753.1:n.1085T=
ENST00000639077.1:n.967T=
ENST00000369538.3:c.1389T= ENSP00000358551.3:p.Asp463=
ENST00000520113.6:c.1401T= ENSP00000430075.2:p.Asp467=
NM_000036.2:c.1401T= NP_000027.2:p.Asp467=
NM_001172626.1:c.1389T= NP_001166097.1:p.Asp463=
NM_000036.3:c.1302T= MANE Select NP_000027.3:p.Asp434=
NM_001172626.2:c.1290T= NP_001166097.2:p.Asp430=