Canonical Allele Identifier: CA341749091
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677977T>A , CM000663.2:g.114677977T>A GRCh38
NC_000001.10:g.115220598T>A , CM000663.1:g.115220598T>A GRCh37
NC_000001.9:g.115022121T>A NCBI36
NG_008012.1:g.22579A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1145A>T ENSP00000358551.4:p.Glu382Val
ENST00000520113.7:c.1157A>T MANE Select ENSP00000430075.3:p.Glu386Val
ENST00000637080.1:n.940A>T ENSP00000489753.1:n.940A>T
ENST00000639077.1:n.822A>T
ENST00000369538.3:c.1244A>T ENSP00000358551.3:p.Glu415Val
ENST00000520113.6:c.1256A>T ENSP00000430075.2:p.Glu419Val
NM_000036.2:c.1256A>T NP_000027.2:p.Glu419Val
NM_001172626.1:c.1244A>T NP_001166097.1:p.Glu415Val
NM_000036.3:c.1157A>T MANE Select NP_000027.3:p.Glu386Val
NM_001172626.2:c.1145A>T NP_001166097.2:p.Glu382Val