Canonical Allele Identifier: CA341749127
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677995T>A , CM000663.2:g.114677995T>A GRCh38
NC_000001.10:g.115220616T>A , CM000663.1:g.115220616T>A GRCh37
NC_000001.9:g.115022139T>A NCBI36
NG_008012.1:g.22561A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1127A>T ENSP00000358551.4:p.Asn376Ile
ENST00000520113.7:c.1139A>T MANE Select ENSP00000430075.3:p.Asn380Ile
ENST00000637080.1:c.922A>T ENSP00000489753.1:n.922A>T
ENST00000639077.1:n.804A>T
ENST00000369538.3:c.1226A>T ENSP00000358551.3:p.Asn409Ile
ENST00000520113.6:c.1238A>T ENSP00000430075.2:p.Asn413Ile
NM_000036.2:c.1238A>T NP_000027.2:p.Asn413Ile
NM_001172626.1:c.1226A>T NP_001166097.1:p.Asn409Ile
NM_000036.3:c.1139A>T MANE Select NP_000027.3:p.Asn380Ile
NM_001172626.2:c.1127A>T NP_001166097.2:p.Asn376Ile