Canonical Allele Identifier: CA1005999710
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677872C>A , CM000663.2:g.114677872C>A GRCh38
NC_000001.10:g.115220493C>A , CM000663.1:g.115220493C>A GRCh37
NC_000001.9:g.115022016C>A NCBI36
NG_008012.1:g.22684G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+38G>T ENSP00000358551.4:n.1212+38G>T
ENST00000520113.7:c.1224+38G>T MANE Select ENSP00000430075.3:n.1224+38G>T
ENST00000637080.1:n.1007+38G>T ENSP00000489753.1:n.1007+38G>T
ENST00000639077.1:n.889+38G>T
ENST00000369538.3:c.1311+38G>T ENSP00000358551.3:n.1311+38G>T
ENST00000520113.6:c.1323+38G>T ENSP00000430075.2:n.1323+38G>T
NM_000036.2:c.1323+38G>T NP_000027.2:n.1323+38G>T
NM_001172626.1:c.1311+38G>T NP_001166097.1:n.1311+38G>T
NM_000036.3:c.1224+38G>T MANE Select NP_000027.3:n.1224+38G>T
NM_001172626.2:c.1212+38G>T NP_001166097.2:n.1212+38G>T