Canonical Allele Identifier: CA581596440

Gene: AP3M2

Linked Data

• dbSNP Id: rs1385398369
• gnomAD v2: 8-42027339-A-C
• gnomAD v3: 8-42169821-A-C
• gnomAD v4: 8-42169821-A-C
• MyVariant Identifiers: chr8:g.42027339A>C (hg19) ; chr8:g.42169821A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169821A>C , CM000670.2:g.42169821A>C	GRCh38
NC_000008.10:g.42027339A>C , CM000670.1:g.42027339A>C	GRCh37
NC_000008.9:g.42146496A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*760A>C MANE Select	ENSP00000380132.3:n.*760A>C
ENST00000174653.3:c.*760A>C	ENSP00000174653.3:n.*760A>C
ENST00000396926.7:c.*760A>C	ENSP00000380132.3:n.*760A>C
ENST00000518421.5:c.*760A>C	ENSP00000428787.1:n.*760A>C
ENST00000520689.1:c.372-68A>C	ENSP00000429804.1:n.372-68A>C
NM_001134296.1:c.*760A>C	NP_001127768.1:n.*760A>C
NM_006803.3:c.*760A>C	NP_006794.1:n.*760A>C
XM_017012977.2:c.*760A>C	XP_016868466.1:n.*760A>C
XR_001745459.2:n.2302A>C
NM_006803.4:c.*760A>C MANE Select	NP_006794.1:n.*760A>C
NM_001134296.2:c.*760A>C	NP_001127768.1:n.*760A>C