Canonical Allele Identifier: CA581596383

Gene: AP3M2

Linked Data

• dbSNP Id: rs1316606990
• gnomAD v2: 8-42026932-G-C
• gnomAD v3: 8-42169414-G-C
• gnomAD v4: 8-42169414-G-C
• MyVariant Identifiers: chr8:g.42026932G>C (hg19) ; chr8:g.42169414G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169414G>C , CM000670.2:g.42169414G>C	GRCh38
NC_000008.10:g.42026932G>C , CM000670.1:g.42026932G>C	GRCh37
NC_000008.9:g.42146089G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*353G>C MANE Select	ENSP00000380132.3:n.*353G>C
ENST00000174653.3:c.*353G>C	ENSP00000174653.3:n.*353G>C
ENST00000396926.7:c.*353G>C	ENSP00000380132.3:n.*353G>C
ENST00000518421.5:c.*353G>C	ENSP00000428787.1:n.*353G>C
ENST00000520689.1:c.371+129G>C	ENSP00000429804.1:n.371+129G>C
NM_001134296.1:c.*353G>C	NP_001127768.1:n.*353G>C
NM_006803.3:c.*353G>C	NP_006794.1:n.*353G>C
XM_017012977.2:c.*353G>C	XP_016868466.1:n.*353G>C
XR_001745459.2:n.1895G>C
NM_006803.4:c.*353G>C MANE Select	NP_006794.1:n.*353G>C
NM_001134296.2:c.*353G>C	NP_001127768.1:n.*353G>C