Canonical Allele Identifier: CA504775319

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2129447C>T , CM000681.2:g.2129447C>T	GRCh38
NC_000019.9:g.2129446C>T , CM000681.1:g.2129446C>T	GRCh37
NC_000019.8:g.2080446C>T	NCBI36
NG_052886.2:g.40022G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.603G>A MANE Select	NP_001248755.1:p.Ser201=
ENST00000643116.3:c.603G>A MANE Select	ENSP00000495274.2:p.Ser201=
NM_001261826.1:c.603G>A	NP_001248755.1:p.Ser201=
NM_001374799.1:c.603G>A	NP_001361728.1:p.Ser201=
NM_003938.6:c.603G>A	NP_003929.4:p.Ser201=
NM_003938.7:c.603G>A	NP_003929.4:p.Ser201=
NM_003938.8:c.603G>A	NP_003929.4:p.Ser201=
ENST00000345016.9:c.603G>A	ENSP00000344055.4:p.Ser201=
ENST00000355272.10:c.603G>A	ENSP00000347416.5:p.Ser201=
ENST00000590683.2:c.82G>A
ENST00000643010.1:c.405G>A	ENSP00000494100.1:p.Ser135=
ENST00000699944.1:n.581G>A
ENST00000700387.1:c.603G>A	ENSP00000514969.1:p.Ser201=
XM_006722932.1:c.603G>A	XP_006722995.1:p.Ser201=
XM_006722932.2:c.603G>A	XP_006722995.1:p.Ser201=
XM_017027422.1:c.-82G>A	XP_016882911.1:n.-82G>A