Canonical Allele Identifier: CA1779304632
Gene: AP3M2 HGNC NCBI

Linked Data

dbSNP Id: rs1804742530
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169690T>C , CM000670.2:g.42169690T>C GRCh38
NC_000008.10:g.42027208T>C , CM000670.1:g.42027208T>C GRCh37
NC_000008.9:g.42146365T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396926.8:c.*629T>C MANE Select ENSP00000380132.3:n.*629T>C
ENST00000174653.3:c.*629T>C ENSP00000174653.3:n.*629T>C
ENST00000396926.7:c.*629T>C ENSP00000380132.3:n.*629T>C
ENST00000518421.5:c.*629T>C ENSP00000428787.1:n.*629T>C
ENST00000520689.1:c.372-199T>C ENSP00000429804.1:n.372-199T>C
NM_001134296.1:c.*629T>C NP_001127768.1:n.*629T>C
NM_006803.3:c.*629T>C NP_006794.1:n.*629T>C
XM_017012977.2:c.*629T>C XP_016868466.1:n.*629T>C
XR_001745459.2:n.2171T>C
NM_006803.4:c.*629T>C MANE Select NP_006794.1:n.*629T>C
NM_001134296.2:c.*629T>C NP_001127768.1:n.*629T>C
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