Canonical Allele Identifier: CA1113194704

Gene: AP3M2

Linked Data

• dbSNP Id: rs1804741504
• gnomAD v3: 8-42169673-A-C
• gnomAD v4: 8-42169673-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169673A>C , CM000670.2:g.42169673A>C	GRCh38
NC_000008.10:g.42027191A>C , CM000670.1:g.42027191A>C	GRCh37
NC_000008.9:g.42146348A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*612A>C MANE Select	ENSP00000380132.3:n.*612A>C
ENST00000174653.3:c.*612A>C	ENSP00000174653.3:n.*612A>C
ENST00000396926.7:c.*612A>C	ENSP00000380132.3:n.*612A>C
ENST00000518421.5:c.*612A>C	ENSP00000428787.1:n.*612A>C
ENST00000520689.1:c.372-216A>C	ENSP00000429804.1:n.372-216A>C
NM_001134296.1:c.*612A>C	NP_001127768.1:n.*612A>C
NM_006803.3:c.*612A>C	NP_006794.1:n.*612A>C
XM_017012977.2:c.*612A>C	XP_016868466.1:n.*612A>C
XR_001745459.2:n.2154A>C
NM_006803.4:c.*612A>C MANE Select	NP_006794.1:n.*612A>C
NM_001134296.2:c.*612A>C	NP_001127768.1:n.*612A>C