Canonical Allele Identifier: CA341748945
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677911T>A , CM000663.2:g.114677911T>A GRCh38
NC_000001.10:g.115220532T>A , CM000663.1:g.115220532T>A GRCh37
NC_000001.9:g.115022055T>A NCBI36
NG_008012.1:g.22645A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1211A>T ENSP00000358551.4:p.Lys404Met
ENST00000520113.7:c.1223A>T MANE Select ENSP00000430075.3:p.Lys408Met
ENST00000637080.1:n.1006A>T ENSP00000489753.1:n.1006A>T
ENST00000639077.1:n.888A>T
ENST00000369538.3:c.1310A>T ENSP00000358551.3:p.Lys437Met
ENST00000520113.6:c.1322A>T ENSP00000430075.2:p.Lys441Met
NM_000036.2:c.1322A>T NP_000027.2:p.Lys441Met
NM_001172626.1:c.1310A>T NP_001166097.1:p.Lys437Met
NM_000036.3:c.1223A>T MANE Select NP_000027.3:p.Lys408Met
NM_001172626.2:c.1211A>T NP_001166097.2:p.Lys404Met