Canonical Allele Identifier: CA2687084084
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169767-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169767C>A , CM000670.2:g.42169767C>A GRCh38
NC_000008.10:g.42027285C>A , CM000670.1:g.42027285C>A GRCh37
NC_000008.9:g.42146442C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396926.8:c.*706C>A MANE Select ENSP00000380132.3:n.*706C>A
ENST00000174653.3:c.*706C>A ENSP00000174653.3:n.*706C>A
ENST00000396926.7:c.*706C>A ENSP00000380132.3:n.*706C>A
ENST00000518421.5:c.*706C>A ENSP00000428787.1:n.*706C>A
ENST00000520689.1:c.372-122C>A ENSP00000429804.1:n.372-122C>A
NM_001134296.1:c.*706C>A NP_001127768.1:n.*706C>A
NM_006803.3:c.*706C>A NP_006794.1:n.*706C>A
XM_017012977.2:c.*706C>A XP_016868466.1:n.*706C>A
XR_001745459.2:n.2248C>A
NM_006803.4:c.*706C>A MANE Select NP_006794.1:n.*706C>A
NM_001134296.2:c.*706C>A NP_001127768.1:n.*706C>A
Search 100 bp 5'
Search 100 bp 3'