Canonical Allele Identifier: CA4137984

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788965C>T , CM000669.2:g.4788965C>T	GRCh38
NC_000007.13:g.4828596C>T , CM000669.1:g.4828596C>T	GRCh37
NC_000007.12:g.4795122C>T	NCBI36
NG_028111.1:g.18335C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1707+14C>T MANE Select	NP_055670.1:n.1707+14C>T
ENST00000649063.2:c.1707+14C>T MANE Select	ENSP00000497815.1:n.1707+14C>T
NM_001364858.1:c.1239+14C>T	NP_001351787.1:n.1239+14C>T
NM_014855.2:c.1707+14C>T	NP_055670.1:n.1707+14C>T
NR_157345.1:n.1838+14C>T
ENST00000348624.4:c.1707+14C>T	ENSP00000297562.4:n.1707+14C>T
ENST00000469614.1:n.726+14C>T
ENST00000477454.1:n.502C>T
ENST00000477680.5:n.1465+14C>T
ENST00000477680.6:n.1465+14C>T
ENST00000496303.5:n.1771+14C>T
ENST00000496303.6:n.1535+14C>T
ENST00000647984.1:c.*1052+14C>T	ENSP00000497794.1:n.*1052+14C>T
ENST00000648360.1:c.317+14C>T
ENST00000648925.1:c.1707+14C>T	ENSP00000496830.1:n.1707+14C>T
ENST00000649315.1:c.1204+14C>T
ENST00000649419.1:n.1586+14C>T
ENST00000649736.1:n.570+14C>T
ENST00000650310.1:c.*278+14C>T	ENSP00000497395.1:n.*278+14C>T
ENST00000650581.1:c.509+14C>T