Canonical Allele Identifier: CA9059770

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2137001G>C , CM000681.2:g.2137001G>C	GRCh38
NC_000019.9:g.2137000G>C , CM000681.1:g.2137000G>C	GRCh37
NC_000019.8:g.2088000G>C	NCBI36
NG_052886.2:g.32468C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.354+10C>G MANE Select	NP_001248755.1:n.354+10C>G
ENST00000643116.3:c.354+10C>G MANE Select	ENSP00000495274.2:n.354+10C>G
NM_001261826.1:c.354+10C>G	NP_001248755.1:n.354+10C>G
NM_001374799.1:c.354+10C>G	NP_001361728.1:n.354+10C>G
NM_003938.6:c.354+10C>G	NP_003929.4:n.354+10C>G
NM_003938.7:c.354+10C>G	NP_003929.4:n.354+10C>G
NM_003938.8:c.354+10C>G	NP_003929.4:n.354+10C>G
ENST00000345016.9:c.354+10C>G	ENSP00000344055.4:n.354+10C>G
ENST00000355272.10:c.354+10C>G	ENSP00000347416.5:n.354+10C>G
ENST00000591284.2:n.368+10C>G
ENST00000643010.1:c.156+10C>G	ENSP00000494100.1:n.156+10C>G
ENST00000699944.1:n.358+10C>G
ENST00000700387.1:c.354+10C>G	ENSP00000514969.1:n.354+10C>G
XM_006722932.1:c.354+10C>G	XP_006722995.1:n.354+10C>G
XM_006722932.2:c.354+10C>G	XP_006722995.1:n.354+10C>G