Canonical Allele Identifier: CA2716956302
Gene: AP3M2 HGNC NCBI

Linked Data

dbSNP Id: rs2129651056
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169651T>C , CM000670.2:g.42169651T>C GRCh38
NC_000008.10:g.42027169T>C , CM000670.1:g.42027169T>C GRCh37
NC_000008.9:g.42146326T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396926.8:c.*590T>C MANE Select ENSP00000380132.3:n.*590T>C
ENST00000174653.3:c.*590T>C ENSP00000174653.3:n.*590T>C
ENST00000396926.7:c.*590T>C ENSP00000380132.3:n.*590T>C
ENST00000518421.5:c.*590T>C ENSP00000428787.1:n.*590T>C
ENST00000520689.1:c.372-238T>C ENSP00000429804.1:n.372-238T>C
NM_001134296.1:c.*590T>C NP_001127768.1:n.*590T>C
NM_006803.3:c.*590T>C NP_006794.1:n.*590T>C
XM_017012977.2:c.*590T>C XP_016868466.1:n.*590T>C
XR_001745459.2:n.2132T>C
NM_006803.4:c.*590T>C MANE Select NP_006794.1:n.*590T>C
NM_001134296.2:c.*590T>C NP_001127768.1:n.*590T>C
Search 100 bp 5'
Search 100 bp 3'