Canonical Allele Identifier: CA14680872

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2117076G>A , CM000681.2:g.2117076G>A	GRCh38
NC_000019.9:g.2117075G>A , CM000681.1:g.2117075G>A	GRCh37
NC_000019.8:g.2068075G>A	NCBI36
NG_052886.2:g.52393C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.1859+146C>T MANE Select	NP_001248755.1:n.1859+146C>T
ENST00000643116.3:c.1859+146C>T MANE Select	ENSP00000495274.2:n.1859+146C>T
NM_001261826.1:c.1859+146C>T	NP_001248755.1:n.1859+146C>T
NM_001374799.1:c.1859+146C>T	NP_001361728.1:n.1859+146C>T
NM_003938.6:c.1859+146C>T	NP_003929.4:n.1859+146C>T
NM_003938.7:c.1859+146C>T	NP_003929.4:n.1859+146C>T
NM_003938.8:c.1859+146C>T	NP_003929.4:n.1859+146C>T
ENST00000345016.9:c.1859+146C>T	ENSP00000344055.4:n.1859+146C>T
ENST00000355272.10:c.1859+146C>T	ENSP00000347416.5:n.1859+146C>T
ENST00000586177.1:n.318C>T
ENST00000591631.2:n.384+146C>T
ENST00000644728.1:c.1085+146C>T	ENSP00000494972.1:n.1085+146C>T
ENST00000699944.1:n.1837+146C>T
ENST00000699945.1:n.1512+146C>T
ENST00000700387.1:c.1859+146C>T	ENSP00000514969.1:n.1859+146C>T
XM_006722932.1:c.1859+146C>T	XP_006722995.1:n.1859+146C>T
XM_006722932.2:c.1859+146C>T	XP_006722995.1:n.1859+146C>T
XM_017027422.1:c.1175+146C>T	XP_016882911.1:n.1175+146C>T