Canonical Allele Identifier: CA10626174
Gene: AP5Z1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360371
ClinVar RCV Id: RCV000387957
dbSNP Id: rs11976063
gnomAD v2: 7-4831969-T-C
gnomAD v3: 7-4792338-T-C
gnomAD v4: 7-4792338-T-C
MyVariant Identifiers: chr7:g.4831969T>C (hg19) chr7:g.4792338T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4792338T>C , CM000669.2:g.4792338T>C GRCh38
NC_000007.13:g.4831969T>C , CM000669.1:g.4831969T>C GRCh37
NC_000007.12:g.4798495T>C NCBI36
NG_028111.1:g.21708T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648925.1:c.*1780T>C ENSP00000496830.1:n.*1780T>C
ENST00000649063.2:c.*953T>C MANE Select ENSP00000497815.1:n.*953T>C
ENST00000496303.5:n.3686T>C
NM_014855.2:c.*953T>C NP_055670.1:n.*953T>C
NM_001364858.1:c.*953T>C NP_001351787.1:n.*953T>C
NM_014855.3:c.*953T>C MANE Select NP_055670.1:n.*953T>C
NR_157345.1:n.3508T>C
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