Canonical Allele Identifier: CA2687084060
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169666-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169666C>A , CM000670.2:g.42169666C>A GRCh38
NC_000008.10:g.42027184C>A , CM000670.1:g.42027184C>A GRCh37
NC_000008.9:g.42146341C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396926.8:c.*605C>A MANE Select ENSP00000380132.3:n.*605C>A
ENST00000174653.3:c.*605C>A ENSP00000174653.3:n.*605C>A
ENST00000396926.7:c.*605C>A ENSP00000380132.3:n.*605C>A
ENST00000518421.5:c.*605C>A ENSP00000428787.1:n.*605C>A
ENST00000520689.1:c.372-223C>A ENSP00000429804.1:n.372-223C>A
NM_001134296.1:c.*605C>A NP_001127768.1:n.*605C>A
NM_006803.3:c.*605C>A NP_006794.1:n.*605C>A
XM_017012977.2:c.*605C>A XP_016868466.1:n.*605C>A
XR_001745459.2:n.2147C>A
NM_006803.4:c.*605C>A MANE Select NP_006794.1:n.*605C>A
NM_001134296.2:c.*605C>A NP_001127768.1:n.*605C>A
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