Canonical Allele Identifier: CA392863483
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077618A>G , CM000677.2:g.65077618A>G GRCh38
NC_000015.9:g.65369956A>G , CM000677.1:g.65369956A>G GRCh37
NC_000015.8:g.63157009A>G NCBI36
NG_021411.1:g.5803A>G , LRG_682:g.5803A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.803A>G MANE Select ENSP00000388723.2:p.Gln268Arg
ENST00000432196.3:c.803A>G ENSP00000388723.2:p.Gln268Arg
NM_001101362.2:c.803A>G , LRG_682t1:c.803A>G NP_001094832.1:p.Gln268Arg
NM_001101362.3:c.803A>G MANE Select NP_001094832.1:p.Gln268Arg