Canonical Allele Identifier: CA153037336
Community Standard Title: NM_014855.3(AP5Z1):c.*150G>A
Gene: AP5Z1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4791535G>A , CM000669.2:g.4791535G>A GRCh38
NC_000007.13:g.4831166G>A , CM000669.1:g.4831166G>A GRCh37
NC_000007.12:g.4797692G>A NCBI36
NG_028111.1:g.20905G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014855.3:c.*150G>A MANE Select NP_055670.1:n.*150G>A
ENST00000649063.2:c.*150G>A MANE Select ENSP00000497815.1:n.*150G>A
NM_001364858.1:c.*150G>A NP_001351787.1:n.*150G>A
NM_014855.2:c.*150G>A NP_055670.1:n.*150G>A
NR_157345.1:n.2705G>A
ENST00000348624.4:c.*150G>A ENSP00000297562.4:n.*150G>A
ENST00000469614.1:n.2122G>A
ENST00000477680.5:n.2861G>A
ENST00000477680.6:n.2861G>A
ENST00000490487.1:n.725G>A
ENST00000496303.5:n.2883G>A
ENST00000496303.6:n.2402G>A
ENST00000647984.1:c.*1919G>A ENSP00000497794.1:n.*1919G>A
ENST00000648237.1:c.725G>A
ENST00000648360.1:c.1254G>A
ENST00000648925.1:c.*977G>A ENSP00000496830.1:n.*977G>A
ENST00000649736.1:n.1437G>A
ENST00000650310.1:c.*1145G>A ENSP00000497395.1:n.*1145G>A
ENST00000650581.1:c.1106G>A