Canonical Allele Identifier: CA341749111
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677987C>G , CM000663.2:g.114677987C>G GRCh38
NC_000001.10:g.115220608C>G , CM000663.1:g.115220608C>G GRCh37
NC_000001.9:g.115022131C>G NCBI36
NG_008012.1:g.22569G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1135G>C ENSP00000358551.4:p.Gly379Arg
ENST00000520113.7:c.1147G>C MANE Select ENSP00000430075.3:p.Gly383Arg
ENST00000637080.1:c.930G>C ENSP00000489753.1:n.930G>C
ENST00000639077.1:n.812G>C
ENST00000369538.3:c.1234G>C ENSP00000358551.3:p.Gly412Arg
ENST00000520113.6:c.1246G>C ENSP00000430075.2:p.Gly416Arg
NM_000036.2:c.1246G>C NP_000027.2:p.Gly416Arg
NM_001172626.1:c.1234G>C NP_001166097.1:p.Gly412Arg
NM_000036.3:c.1147G>C MANE Select NP_000027.3:p.Gly383Arg
NM_001172626.2:c.1135G>C NP_001166097.2:p.Gly379Arg