Canonical Allele Identifier: CA16289618

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4786708T>C , CM000669.2:g.4786708T>C	GRCh38
NC_000007.13:g.4826339T>C , CM000669.1:g.4826339T>C	GRCh37
NC_000007.12:g.4792865T>C	NCBI36
NG_028111.1:g.16078T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1311+280T>C MANE Select	NP_055670.1:n.1311+280T>C
ENST00000649063.2:c.1311+280T>C MANE Select	ENSP00000497815.1:n.1311+280T>C
NM_001364858.1:c.843+280T>C	NP_001351787.1:n.843+280T>C
NM_014855.2:c.1311+280T>C	NP_055670.1:n.1311+280T>C
NR_157345.1:n.1404+280T>C
ENST00000348624.4:c.1311+280T>C	ENSP00000297562.4:n.1311+280T>C
ENST00000477454.1:n.54+280T>C
ENST00000477680.5:n.1069+280T>C
ENST00000477680.6:n.1069+280T>C
ENST00000496303.5:n.1375+280T>C
ENST00000496303.6:n.1139+280T>C
ENST00000647984.1:c.*656+280T>C	ENSP00000497794.1:n.*656+280T>C
ENST00000648765.1:n.634+280T>C
ENST00000648925.1:c.1311+280T>C	ENSP00000496830.1:n.1311+280T>C
ENST00000649315.1:c.770+280T>C
ENST00000649419.1:n.1152+280T>C
ENST00000650310.1:c.1311+280T>C	ENSP00000497395.1:n.1311+280T>C
ENST00000650581.1:c.113+280T>C
XR_242109.1:n.1336+280T>C