Canonical Allele Identifier: CA392862786
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077546C>A , CM000677.2:g.65077546C>A GRCh38
NC_000015.9:g.65369884C>A , CM000677.1:g.65369884C>A GRCh37
NC_000015.8:g.63156937C>A NCBI36
NG_021411.1:g.5731C>A , LRG_682:g.5731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.731C>A MANE Select ENSP00000388723.2:p.Pro244Gln
ENST00000432196.3:c.731C>A ENSP00000388723.2:p.Pro244Gln
NM_001101362.2:c.731C>A , LRG_682t1:c.731C>A NP_001094832.1:p.Pro244Gln
NM_001101362.3:c.731C>A MANE Select NP_001094832.1:p.Pro244Gln