Canonical Allele Identifier: CA2183440259
Gene: KBTBD13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077586C= , CM000677.2:g.65077586C= GRCh38
NC_000015.9:g.65369924C= , CM000677.1:g.65369924C= GRCh37
NC_000015.8:g.63156977C= NCBI36
NG_021411.1:g.5771C= , LRG_682:g.5771C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.771C= MANE Select ENSP00000388723.2:p.Asp257=
ENST00000432196.3:c.771C= ENSP00000388723.2:p.Asp257=
NM_001101362.2:c.771C= , LRG_682t1:c.771C= NP_001094832.1:p.Asp257=
NM_001101362.3:c.771C= MANE Select NP_001094832.1:p.Asp257=