Canonical Allele Identifier: CA1258629542
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1673413821

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371838G>T , CM000664.2:g.68371838G>T GRCh38
NC_000002.11:g.68598970G>T , CM000664.1:g.68598970G>T GRCh37
NC_000002.10:g.68452474G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6445G>T MANE Select ENSP00000234313.7:n.42+6445G>T
ENST00000234313.7:c.42+6445G>T ENSP00000234313.7:n.42+6445G>T
NM_002664.2:c.42+6445G>T NP_002655.2:n.42+6445G>T
XM_011532916.1:c.42+6445G>T XP_011531218.1:n.42+6445G>T
NM_002664.3:c.42+6445G>T MANE Select NP_002655.2:n.42+6445G>T