Canonical Allele Identifier: CA4137426

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784971G>A , CM000669.2:g.4784971G>A	GRCh38
NC_000007.13:g.4824602G>A , CM000669.1:g.4824602G>A	GRCh37
NC_000007.12:g.4791128G>A	NCBI36
NG_028111.1:g.14341G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.854G>A MANE Select	NP_055670.1:p.Arg285His
ENST00000649063.2:c.854G>A MANE Select	ENSP00000497815.1:p.Arg285His
NM_001364858.1:c.386G>A	NP_001351787.1:p.Arg129His
NM_014855.2:c.854G>A	NP_055670.1:p.Arg285His
NR_157345.1:n.947G>A
ENST00000348624.4:c.854G>A	ENSP00000297562.4:p.Arg285His
ENST00000477680.5:n.612G>A
ENST00000477680.6:n.612G>A
ENST00000491375.1:n.709G>A
ENST00000496303.5:n.918G>A
ENST00000496303.6:n.682G>A
ENST00000647628.1:n.345G>A
ENST00000647984.1:c.*199G>A	ENSP00000497794.1:n.*199G>A
ENST00000648925.1:c.854G>A	ENSP00000496830.1:p.Arg285His
ENST00000649315.1:c.64G>A
ENST00000649419.1:n.61G>A
ENST00000650310.1:c.854G>A	ENSP00000497395.1:p.Arg285His
XR_242109.1:n.879G>A