Canonical Allele Identifier: CA1258629552
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1673414605

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371853C>T , CM000664.2:g.68371853C>T GRCh38
NC_000002.11:g.68598985C>T , CM000664.1:g.68598985C>T GRCh37
NC_000002.10:g.68452489C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6460C>T MANE Select ENSP00000234313.7:n.42+6460C>T
ENST00000234313.7:c.42+6460C>T ENSP00000234313.7:n.42+6460C>T
NM_002664.2:c.42+6460C>T NP_002655.2:n.42+6460C>T
XM_011532916.1:c.42+6460C>T XP_011531218.1:n.42+6460C>T
NM_002664.3:c.42+6460C>T MANE Select NP_002655.2:n.42+6460C>T