Canonical Allele Identifier: CA9058707

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2111805C>T , CM000681.2:g.2111805C>T	GRCh38
NC_000019.9:g.2111804C>T , CM000681.1:g.2111804C>T	GRCh37
NC_000019.8:g.2062804C>T	NCBI36
NG_052886.2:g.57664G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.2811G>A MANE Select	NP_001248755.1:p.Lys937=
ENST00000643116.3:c.2811G>A MANE Select	ENSP00000495274.2:p.Lys937=
NM_001261826.1:c.2811G>A	NP_001248755.1:p.Lys937=
NM_001374799.1:c.2775G>A	NP_001361728.1:p.Lys925=
NM_003938.6:c.2625G>A	NP_003929.4:p.Lys875=
NM_003938.7:c.2625G>A	NP_003929.4:p.Lys875=
NM_003938.8:c.2625G>A	NP_003929.4:p.Lys875=
ENST00000345016.9:c.2625G>A	ENSP00000344055.4:p.Lys875=
ENST00000355272.10:c.2811G>A	ENSP00000347416.5:p.Lys937=
ENST00000585652.5:n.1019G>A
ENST00000589223.5:n.602G>A
ENST00000592488.2:n.693G>A
ENST00000644728.1:c.2001G>A	ENSP00000494972.1:p.Lys667=
ENST00000699940.1:n.305G>A
ENST00000699941.1:n.617G>A
ENST00000699942.1:n.903G>A
ENST00000699943.1:n.170G>A
ENST00000700387.1:c.2775G>A	ENSP00000514969.1:p.Lys925=
XM_006722932.1:c.2775G>A	XP_006722995.1:p.Lys925=
XM_006722932.2:c.2775G>A	XP_006722995.1:p.Lys925=
XM_017027422.1:c.2127G>A	XP_016882911.1:p.Lys709=