Canonical Allele Identifier: CA2183440227
Gene: KBTBD13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077571G= , CM000677.2:g.65077571G= GRCh38
NC_000015.9:g.65369909G= , CM000677.1:g.65369909G= GRCh37
NC_000015.8:g.63156962G= NCBI36
NG_021411.1:g.5756G= , LRG_682:g.5756G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.756G= MANE Select ENSP00000388723.2:p.Ala252=
ENST00000432196.3:c.756G= ENSP00000388723.2:p.Ala252=
NM_001101362.2:c.756G= , LRG_682t1:c.756G= NP_001094832.1:p.Ala252=
NM_001101362.3:c.756G= MANE Select NP_001094832.1:p.Ala252=