Canonical Allele Identifier: CA1258629517
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1673411814

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371787A>C , CM000664.2:g.68371787A>C GRCh38
NC_000002.11:g.68598919A>C , CM000664.1:g.68598919A>C GRCh37
NC_000002.10:g.68452423A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6394A>C MANE Select ENSP00000234313.7:n.42+6394A>C
ENST00000234313.7:c.42+6394A>C ENSP00000234313.7:n.42+6394A>C
NM_002664.2:c.42+6394A>C NP_002655.2:n.42+6394A>C
XM_011532916.1:c.42+6394A>C XP_011531218.1:n.42+6394A>C
NM_002664.3:c.42+6394A>C MANE Select NP_002655.2:n.42+6394A>C