Canonical Allele Identifier: CA1258629565
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs56084564
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371885C>G , CM000664.2:g.68371885C>G GRCh38
NC_000002.11:g.68599017C>G , CM000664.1:g.68599017C>G GRCh37
NC_000002.10:g.68452521C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6492C>G MANE Select ENSP00000234313.7:n.42+6492C>G
ENST00000234313.7:c.42+6492C>G ENSP00000234313.7:n.42+6492C>G
NM_002664.2:c.42+6492C>G NP_002655.2:n.42+6492C>G
XM_011532916.1:c.42+6492C>G XP_011531218.1:n.42+6492C>G
NM_002664.3:c.42+6492C>G MANE Select NP_002655.2:n.42+6492C>G
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