Canonical Allele Identifier: CA14651176

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2116834T>C , CM000681.2:g.2116834T>C	GRCh38
NC_000019.9:g.2116833T>C , CM000681.1:g.2116833T>C	GRCh37
NC_000019.8:g.2067833T>C	NCBI36
NG_052886.2:g.52635A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.1860-88A>G MANE Select	NP_001248755.1:n.1860-88A>G
ENST00000643116.3:c.1860-88A>G MANE Select	ENSP00000495274.2:n.1860-88A>G
NM_001261826.1:c.1860-88A>G	NP_001248755.1:n.1860-88A>G
NM_001374799.1:c.1860-88A>G	NP_001361728.1:n.1860-88A>G
NM_003938.6:c.1860-88A>G	NP_003929.4:n.1860-88A>G
NM_003938.7:c.1860-88A>G	NP_003929.4:n.1860-88A>G
NM_003938.8:c.1860-88A>G	NP_003929.4:n.1860-88A>G
ENST00000345016.9:c.1860-88A>G	ENSP00000344055.4:n.1860-88A>G
ENST00000355272.10:c.1860-88A>G	ENSP00000347416.5:n.1860-88A>G
ENST00000586177.1:n.560A>G
ENST00000591631.2:n.385-38A>G
ENST00000644728.1:c.1086-88A>G	ENSP00000494972.1:n.1086-88A>G
ENST00000699944.1:n.1838-88A>G
ENST00000699945.1:n.1513-38A>G
ENST00000700387.1:c.1860-88A>G	ENSP00000514969.1:n.1860-88A>G
XM_006722932.1:c.1860-88A>G	XP_006722995.1:n.1860-88A>G
XM_006722932.2:c.1860-88A>G	XP_006722995.1:n.1860-88A>G
XM_017027422.1:c.1176-88A>G	XP_016882911.1:n.1176-88A>G