Canonical Allele Identifier: CA1190276587
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677905C>T , CM000663.2:g.114677905C>T GRCh38
NC_000001.10:g.115220526C>T , CM000663.1:g.115220526C>T GRCh37
NC_000001.9:g.115022049C>T NCBI36
NG_008012.1:g.22651G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+5G>A ENSP00000358551.4:n.1212+5G>A
ENST00000520113.7:c.1224+5G>A MANE Select ENSP00000430075.3:n.1224+5G>A
ENST00000637080.1:n.1007+5G>A ENSP00000489753.1:n.1007+5G>A
ENST00000639077.1:n.889+5G>A
ENST00000369538.3:c.1311+5G>A ENSP00000358551.3:n.1311+5G>A
ENST00000520113.6:c.1323+5G>A ENSP00000430075.2:n.1323+5G>A
NM_000036.2:c.1323+5G>A NP_000027.2:n.1323+5G>A
NM_001172626.1:c.1311+5G>A NP_001166097.1:n.1311+5G>A
NM_000036.3:c.1224+5G>A MANE Select NP_000027.3:n.1224+5G>A
NM_001172626.2:c.1212+5G>A NP_001166097.2:n.1212+5G>A