Canonical Allele Identifier: CA13453142
Gene: PKP3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.396308G>A
GRCh37 chr11:g.396308G>A
gnomAD v2:
11:396308 G / A
gnomAD v3:
11:396308 G / A
gnomAD v4:
chr11-396308-G-A
Joint Max Group AF 0.5964006 (EAS)
Genomes Max Group AF 0.541238 (EAS)
Exomes Max Group AF 0.60890507 (EAS)
dbSNP:
10902158
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.396308G>A , CM000673.2:g.396308G>A GRCh38
NC_000011.9:g.396308G>A , CM000673.1:g.396308G>A GRCh37
NC_000011.8:g.386308G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331563.7:c.233-300G>A MANE Select ENSP00000331678.2:n.233-300G>A
ENST00000331563.6:c.233-300G>A ENSP00000331678.2:n.233-300G>A
ENST00000527442.5:c.-236-300G>A ENSP00000435522.1:n.-236-300G>A
ENST00000528036.5:c.-236-300G>A ENSP00000434110.1:n.-236-300G>A
ENST00000530695.1:n.158G>A
ENST00000531857.1:c.59-300G>A ENSP00000435478.1:n.59-300G>A
ENST00000533069.1:n.283-300G>A
ENST00000533249.5:c.-236-300G>A ENSP00000435383.1:n.-236-300G>A
ENST00000534401.5:c.278-300G>A ENSP00000434517.2:n.278-300G>A
NM_001303029.1:c.278-300G>A NP_001289958.1:n.278-300G>A
NM_007183.3:c.233-300G>A NP_009114.1:n.233-300G>A
NM_007183.4:c.233-300G>A MANE Select NP_009114.1:n.233-300G>A
NM_001303029.2:c.278-300G>A NP_001289958.1:n.278-300G>A
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