Canonical Allele Identifier: CA15950436

Gene: AP3D1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2115480C>T , CM000681.2:g.2115480C>T	GRCh38
NC_000019.9:g.2115479C>T , CM000681.1:g.2115479C>T	GRCh37
NC_000019.8:g.2066479C>T	NCBI36
NG_052886.2:g.53989G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001261826.3:c.2149+58G>A MANE Select	NP_001248755.1:n.2149+58G>A
ENST00000643116.3:c.2149+58G>A MANE Select	ENSP00000495274.2:n.2149+58G>A
NM_001261826.1:c.2149+58G>A	NP_001248755.1:n.2149+58G>A
NM_001374799.1:c.2149+58G>A	NP_001361728.1:n.2149+58G>A
NM_003938.6:c.2149+58G>A	NP_003929.4:n.2149+58G>A
NM_003938.7:c.2149+58G>A	NP_003929.4:n.2149+58G>A
NM_003938.8:c.2149+58G>A	NP_003929.4:n.2149+58G>A
ENST00000345016.9:c.2149+58G>A	ENSP00000344055.4:n.2149+58G>A
ENST00000355272.10:c.2149+58G>A	ENSP00000347416.5:n.2149+58G>A
ENST00000591631.2:n.724+58G>A
ENST00000644728.1:c.1375+58G>A	ENSP00000494972.1:n.1375+58G>A
ENST00000699944.1:n.2127+58G>A
ENST00000699945.1:n.1852+58G>A
ENST00000700387.1:c.2149+58G>A	ENSP00000514969.1:n.2149+58G>A
XM_006722932.1:c.2149+58G>A	XP_006722995.1:n.2149+58G>A
XM_006722932.2:c.2149+58G>A	XP_006722995.1:n.2149+58G>A
XM_017027422.1:c.1465+58G>A	XP_016882911.1:n.1465+58G>A