Canonical Allele Identifier: CA341749100
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677981T>G , CM000663.2:g.114677981T>G GRCh38
NC_000001.10:g.115220602T>G , CM000663.1:g.115220602T>G GRCh37
NC_000001.9:g.115022125T>G NCBI36
NG_008012.1:g.22575A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1141A>C ENSP00000358551.4:p.Ser381Arg
ENST00000520113.7:c.1153A>C MANE Select ENSP00000430075.3:p.Ser385Arg
ENST00000637080.1:n.936A>C ENSP00000489753.1:n.936A>C
ENST00000639077.1:n.818A>C
ENST00000369538.3:c.1240A>C ENSP00000358551.3:p.Ser414Arg
ENST00000520113.6:c.1252A>C ENSP00000430075.2:p.Ser418Arg
NM_000036.2:c.1252A>C NP_000027.2:p.Ser418Arg
NM_001172626.1:c.1240A>C NP_001166097.1:p.Ser414Arg
NM_000036.3:c.1153A>C MANE Select NP_000027.3:p.Ser385Arg
NM_001172626.2:c.1141A>C NP_001166097.2:p.Ser381Arg