Canonical Allele Identifier: CA9059111

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2116650A>G , CM000681.2:g.2116650A>G	GRCh38
NC_000019.9:g.2116649A>G , CM000681.1:g.2116649A>G	GRCh37
NC_000019.8:g.2067649A>G	NCBI36
NG_052886.2:g.52819T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.1956T>C MANE Select	NP_001248755.1:p.Arg652=
ENST00000643116.3:c.1956T>C MANE Select	ENSP00000495274.2:p.Arg652=
NM_001261826.1:c.1956T>C	NP_001248755.1:p.Arg652=
NM_001374799.1:c.1956T>C	NP_001361728.1:p.Arg652=
NM_003938.6:c.1956T>C	NP_003929.4:p.Arg652=
NM_003938.7:c.1956T>C	NP_003929.4:p.Arg652=
NM_003938.8:c.1956T>C	NP_003929.4:p.Arg652=
ENST00000345016.9:c.1956T>C	ENSP00000344055.4:p.Arg652=
ENST00000355272.10:c.1956T>C	ENSP00000347416.5:p.Arg652=
ENST00000591631.2:n.531T>C
ENST00000644728.1:c.1182T>C	ENSP00000494972.1:p.Arg394=
ENST00000699944.1:n.1934T>C
ENST00000699945.1:n.1659T>C
ENST00000700387.1:c.1956T>C	ENSP00000514969.1:p.Arg652=
XM_006722932.1:c.1956T>C	XP_006722995.1:p.Arg652=
XM_006722932.2:c.1956T>C	XP_006722995.1:p.Arg652=
XM_017027422.1:c.1272T>C	XP_016882911.1:p.Arg424=