Canonical Allele Identifier: CA419883121
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677997A>G , CM000663.2:g.114677997A>G GRCh38
NC_000001.10:g.115220618A>G , CM000663.1:g.115220618A>G GRCh37
NC_000001.9:g.115022141A>G NCBI36
NG_008012.1:g.22559T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1125T>C ENSP00000358551.4:p.Tyr375=
ENST00000520113.7:c.1137T>C MANE Select ENSP00000430075.3:p.Tyr379=
ENST00000637080.1:c.920T>C ENSP00000489753.1:n.920T>C
ENST00000639077.1:n.802T>C
ENST00000369538.3:c.1224T>C ENSP00000358551.3:p.Tyr408=
ENST00000520113.6:c.1236T>C ENSP00000430075.2:p.Tyr412=
NM_000036.2:c.1236T>C NP_000027.2:p.Tyr412=
NM_001172626.1:c.1224T>C NP_001166097.1:p.Tyr408=
NM_000036.3:c.1137T>C MANE Select NP_000027.3:p.Tyr379=
NM_001172626.2:c.1125T>C NP_001166097.2:p.Tyr375=