Canonical Allele Identifier: CA4137545

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785517C>T , CM000669.2:g.4785517C>T	GRCh38
NC_000007.13:g.4825148C>T , CM000669.1:g.4825148C>T	GRCh37
NC_000007.12:g.4791674C>T	NCBI36
NG_028111.1:g.14887C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.970-5C>T MANE Select	NP_055670.1:n.970-5C>T
ENST00000649063.2:c.970-5C>T MANE Select	ENSP00000497815.1:n.970-5C>T
NM_001364858.1:c.502-5C>T	NP_001351787.1:n.502-5C>T
NM_014855.2:c.970-5C>T	NP_055670.1:n.970-5C>T
NR_157345.1:n.1063-5C>T
ENST00000348624.4:c.970-5C>T	ENSP00000297562.4:n.970-5C>T
ENST00000477680.5:n.728-5C>T
ENST00000477680.6:n.728-5C>T
ENST00000496303.5:n.1034-5C>T
ENST00000496303.6:n.798-5C>T
ENST00000647628.1:n.461-5C>T
ENST00000647984.1:c.*315-5C>T	ENSP00000497794.1:n.*315-5C>T
ENST00000648925.1:c.970-5C>T	ENSP00000496830.1:n.970-5C>T
ENST00000649315.1:c.180-5C>T
ENST00000649419.1:n.241C>T
ENST00000650310.1:c.970-5C>T	ENSP00000497395.1:n.970-5C>T
XR_242109.1:n.995-5C>T