Canonical Allele Identifier: CA366659103

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4783454C>T , CM000669.2:g.4783454C>T	GRCh38
NC_000007.13:g.4823085C>T , CM000669.1:g.4823085C>T	GRCh37
NC_000007.12:g.4789611C>T	NCBI36
NG_028111.1:g.12824C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.505C>T MANE Select	NP_055670.1:p.Gln169Ter
ENST00000649063.2:c.505C>T MANE Select	ENSP00000497815.1:p.Gln169Ter
NM_001364858.1:c.37C>T	NP_001351787.1:p.Gln13Ter
NM_014855.2:c.505C>T	NP_055670.1:p.Gln169Ter
NR_157345.1:n.598C>T
ENST00000348624.4:c.505C>T	ENSP00000297562.4:p.Gln169Ter
ENST00000477680.5:n.263C>T
ENST00000477680.6:n.263C>T
ENST00000491375.1:n.132C>T
ENST00000496303.5:n.569C>T
ENST00000496303.6:n.340-235C>T
ENST00000647984.1:c.318C>T	ENSP00000497794.1:p.Ser106=
ENST00000648925.1:c.505C>T	ENSP00000496830.1:p.Gln169Ter
ENST00000650310.1:c.505C>T	ENSP00000497395.1:p.Gln169Ter
ENST00000650451.1:c.180-749C>T	ENSP00000496998.1:n.180-749C>T
XR_242109.1:n.530C>T