Canonical Allele Identifier: CA392863275
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077604C>G , CM000677.2:g.65077604C>G GRCh38
NC_000015.9:g.65369942C>G , CM000677.1:g.65369942C>G GRCh37
NC_000015.8:g.63156995C>G NCBI36
NG_021411.1:g.5789C>G , LRG_682:g.5789C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.789C>G MANE Select ENSP00000388723.2:p.Ile263Met
ENST00000432196.3:c.789C>G ENSP00000388723.2:p.Ile263Met
NM_001101362.2:c.789C>G , LRG_682t1:c.789C>G NP_001094832.1:p.Ile263Met
NM_001101362.3:c.789C>G MANE Select NP_001094832.1:p.Ile263Met