Canonical Allele Identifier: CA4137540

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785510C>G , CM000669.2:g.4785510C>G	GRCh38
NC_000007.13:g.4825141C>G , CM000669.1:g.4825141C>G	GRCh37
NC_000007.12:g.4791667C>G	NCBI36
NG_028111.1:g.14880C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.970-12C>G MANE Select	NP_055670.1:n.970-12C>G
ENST00000649063.2:c.970-12C>G MANE Select	ENSP00000497815.1:n.970-12C>G
NM_001364858.1:c.502-12C>G	NP_001351787.1:n.502-12C>G
NM_014855.2:c.970-12C>G	NP_055670.1:n.970-12C>G
NR_157345.1:n.1063-12C>G
ENST00000348624.4:c.970-12C>G	ENSP00000297562.4:n.970-12C>G
ENST00000477680.5:n.728-12C>G
ENST00000477680.6:n.728-12C>G
ENST00000496303.5:n.1034-12C>G
ENST00000496303.6:n.798-12C>G
ENST00000647628.1:n.461-12C>G
ENST00000647984.1:c.*315-12C>G	ENSP00000497794.1:n.*315-12C>G
ENST00000648925.1:c.970-12C>G	ENSP00000496830.1:n.970-12C>G
ENST00000649315.1:c.180-12C>G
ENST00000649419.1:n.234C>G
ENST00000650310.1:c.970-12C>G	ENSP00000497395.1:n.970-12C>G
XR_242109.1:n.995-12C>G