Canonical Allele Identifier: CA4137205
Gene: AP5Z1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.4783366G>A
GRCh37 chr7:g.4822997G>A
gnomAD v2:
7:4822997 G / A
gnomAD v3:
7:4783366 G / A
gnomAD v4:
chr7-4783366-G-A
Joint Max Group AF 0.00011128 (NFE)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00010924 (NFE)
ClinVar RCV:
RCV000863728
ClinVar Variation:
360310
dbSNP:
201203264
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4783366G>A , CM000669.2:g.4783366G>A GRCh38
NC_000007.13:g.4822997G>A , CM000669.1:g.4822997G>A GRCh37
NC_000007.12:g.4789523G>A NCBI36
NG_028111.1:g.12736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477680.6:n.175G>A
ENST00000496303.6:n.340-323G>A
ENST00000647984.1:c.230G>A ENSP00000497794.1:p.Arg77His
ENST00000648925.1:c.417G>A ENSP00000496830.1:p.Ala139=
ENST00000649063.2:c.417G>A MANE Select ENSP00000497815.1:p.Ala139=
ENST00000650310.1:c.417G>A ENSP00000497395.1:p.Ala139=
ENST00000650451.1:c.180-837G>A ENSP00000496998.1:n.180-837G>A
ENST00000348624.4:c.417G>A ENSP00000297562.4:p.Ala139=
ENST00000477680.5:n.175G>A
ENST00000491375.1:n.44G>A
ENST00000496303.5:n.481G>A
NM_014855.2:c.417G>A NP_055670.1:p.Ala139=
XR_242109.1:n.442G>A
NM_001364858.1:c.-52G>A NP_001351787.1:n.-52G>A
NM_014855.3:c.417G>A MANE Select NP_055670.1:p.Ala139=
NR_157345.1:n.510G>A
Search 100 bp 5'
Search 100 bp 3'