Canonical Allele Identifier: CA2716956127
Gene: AP3M2 HGNC NCBI

Linked Data

dbSNP Id: rs2129649956
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169301A>C , CM000670.2:g.42169301A>C GRCh38
NC_000008.10:g.42026819A>C , CM000670.1:g.42026819A>C GRCh37
NC_000008.9:g.42145976A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*240A>C MANE Select ENSP00000380132.3:n.*240A>C
ENST00000174653.3:c.*240A>C ENSP00000174653.3:n.*240A>C
ENST00000396926.7:c.*240A>C ENSP00000380132.3:n.*240A>C
ENST00000518421.5:c.*240A>C ENSP00000428787.1:n.*240A>C
ENST00000520689.1:c.371+16A>C ENSP00000429804.1:n.371+16A>C
NM_001134296.1:c.*240A>C NP_001127768.1:n.*240A>C
NM_006803.3:c.*240A>C NP_006794.1:n.*240A>C
XM_017012977.2:c.*240A>C XP_016868466.1:n.*240A>C
XR_001745459.2:n.1782A>C
NM_006803.4:c.*240A>C MANE Select NP_006794.1:n.*240A>C
NM_001134296.2:c.*240A>C NP_001127768.1:n.*240A>C
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