Canonical Allele Identifier: CA1258629554
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1673414663

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371854A>G , CM000664.2:g.68371854A>G GRCh38
NC_000002.11:g.68598986A>G , CM000664.1:g.68598986A>G GRCh37
NC_000002.10:g.68452490A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6461A>G MANE Select ENSP00000234313.7:n.42+6461A>G
ENST00000234313.7:c.42+6461A>G ENSP00000234313.7:n.42+6461A>G
NM_002664.2:c.42+6461A>G NP_002655.2:n.42+6461A>G
XM_011532916.1:c.42+6461A>G XP_011531218.1:n.42+6461A>G
NM_002664.3:c.42+6461A>G MANE Select NP_002655.2:n.42+6461A>G