Canonical Allele Identifier: CA2183440207
Gene: KBTBD13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077559C= , CM000677.2:g.65077559C= GRCh38
NC_000015.9:g.65369897C= , CM000677.1:g.65369897C= GRCh37
NC_000015.8:g.63156950C= NCBI36
NG_021411.1:g.5744C= , LRG_682:g.5744C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.744C= MANE Select ENSP00000388723.2:p.Arg248=
ENST00000432196.3:c.744C= ENSP00000388723.2:p.Arg248=
NM_001101362.2:c.744C= , LRG_682t1:c.744C= NP_001094832.1:p.Arg248=
NM_001101362.3:c.744C= MANE Select NP_001094832.1:p.Arg248=