Canonical Allele Identifier: CA4137419

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784958T>A , CM000669.2:g.4784958T>A	GRCh38
NC_000007.13:g.4824589T>A , CM000669.1:g.4824589T>A	GRCh37
NC_000007.12:g.4791115T>A	NCBI36
NG_028111.1:g.14328T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.841T>A MANE Select	NP_055670.1:p.Ser281Thr
ENST00000649063.2:c.841T>A MANE Select	ENSP00000497815.1:p.Ser281Thr
NM_001364858.1:c.373T>A	NP_001351787.1:p.Ser125Thr
NM_014855.2:c.841T>A	NP_055670.1:p.Ser281Thr
NR_157345.1:n.934T>A
ENST00000348624.4:c.841T>A	ENSP00000297562.4:p.Ser281Thr
ENST00000477680.5:n.599T>A
ENST00000477680.6:n.599T>A
ENST00000491375.1:n.696T>A
ENST00000496303.5:n.905T>A
ENST00000496303.6:n.669T>A
ENST00000647628.1:n.332T>A
ENST00000647984.1:c.*186T>A	ENSP00000497794.1:n.*186T>A
ENST00000648925.1:c.841T>A	ENSP00000496830.1:p.Ser281Thr
ENST00000649315.1:c.51T>A
ENST00000649419.1:n.48T>A
ENST00000650310.1:c.841T>A	ENSP00000497395.1:p.Ser281Thr
XR_242109.1:n.866T>A