Canonical Allele Identifier: CA4137504

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785431G>C , CM000669.2:g.4785431G>C	GRCh38
NC_000007.13:g.4825062G>C , CM000669.1:g.4825062G>C	GRCh37
NC_000007.12:g.4791588G>C	NCBI36
NG_028111.1:g.14801G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.948G>C MANE Select	NP_055670.1:p.Gly316=
ENST00000649063.2:c.948G>C MANE Select	ENSP00000497815.1:p.Gly316=
NM_001364858.1:c.480G>C	NP_001351787.1:p.Gly160=
NM_014855.2:c.948G>C	NP_055670.1:p.Gly316=
NR_157345.1:n.1041G>C
ENST00000348624.4:c.948G>C	ENSP00000297562.4:p.Gly316=
ENST00000477680.5:n.706G>C
ENST00000477680.6:n.706G>C
ENST00000496303.5:n.1012G>C
ENST00000496303.6:n.776G>C
ENST00000647628.1:n.439G>C
ENST00000647984.1:c.*293G>C	ENSP00000497794.1:n.*293G>C
ENST00000648925.1:c.948G>C	ENSP00000496830.1:p.Gly316=
ENST00000649315.1:c.158G>C
ENST00000649419.1:n.155G>C
ENST00000650310.1:c.948G>C	ENSP00000497395.1:p.Gly316=
XR_242109.1:n.973G>C