Canonical Allele Identifier: CA14668229

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2109813G>C , CM000681.2:g.2109813G>C	GRCh38
NC_000019.9:g.2109812G>C , CM000681.1:g.2109812G>C	GRCh37
NC_000019.8:g.2060812G>C	NCBI36
NG_052886.2:g.59656C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.3350+60C>G MANE Select	NP_001248755.1:n.3350+60C>G
ENST00000643116.3:c.3350+60C>G MANE Select	ENSP00000495274.2:n.3350+60C>G
NM_001261826.1:c.3350+60C>G	NP_001248755.1:n.3350+60C>G
NM_001374799.1:c.3314+60C>G	NP_001361728.1:n.3314+60C>G
NM_003938.6:c.3164+60C>G	NP_003929.4:n.3164+60C>G
NM_003938.7:c.3164+60C>G	NP_003929.4:n.3164+60C>G
NM_003938.8:c.3164+60C>G	NP_003929.4:n.3164+60C>G
ENST00000345016.9:c.3164+60C>G	ENSP00000344055.4:n.3164+60C>G
ENST00000355272.10:c.3350+60C>G	ENSP00000347416.5:n.3350+60C>G
ENST00000585652.5:n.2352C>G
ENST00000586370.5:c.351+60C>G
ENST00000586370.6:c.410+60C>G	ENSP00000468449.2:n.410+60C>G
ENST00000589223.5:n.1875+60C>G
ENST00000589369.2:c.274+60C>G
ENST00000591650.1:n.587+60C>G
ENST00000644728.1:c.2540+60C>G	ENSP00000494972.1:n.2540+60C>G
ENST00000699940.1:n.1232+60C>G
ENST00000699941.1:n.1502+60C>G
ENST00000699942.1:n.1442+60C>G
ENST00000699943.1:n.1538+60C>G
ENST00000700387.1:c.3314+60C>G	ENSP00000514969.1:n.3314+60C>G
XM_006722932.1:c.3314+60C>G	XP_006722995.1:n.3314+60C>G
XM_006722932.2:c.3314+60C>G	XP_006722995.1:n.3314+60C>G
XM_017027422.1:c.2666+60C>G	XP_016882911.1:n.2666+60C>G