Canonical Allele Identifier: CA341748937
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677908A>G , CM000663.2:g.114677908A>G GRCh38
NC_000001.10:g.115220529A>G , CM000663.1:g.115220529A>G GRCh37
NC_000001.9:g.115022052A>G NCBI36
NG_008012.1:g.22648T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+2T>C ENSP00000358551.4:n.1212+2T>C
ENST00000520113.7:c.1224+2T>C MANE Select ENSP00000430075.3:n.1224+2T>C
ENST00000637080.1:n.1007+2T>C ENSP00000489753.1:n.1007+2T>C
ENST00000639077.1:n.889+2T>C
ENST00000369538.3:c.1311+2T>C ENSP00000358551.3:n.1311+2T>C
ENST00000520113.6:c.1323+2T>C ENSP00000430075.2:n.1323+2T>C
NM_000036.2:c.1323+2T>C NP_000027.2:n.1323+2T>C
NM_001172626.1:c.1311+2T>C NP_001166097.1:n.1311+2T>C
NM_000036.3:c.1224+2T>C MANE Select NP_000027.3:n.1224+2T>C
NM_001172626.2:c.1212+2T>C NP_001166097.2:n.1212+2T>C