Canonical Allele Identifier: CA392863263
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077603T>A , CM000677.2:g.65077603T>A GRCh38
NC_000015.9:g.65369941T>A , CM000677.1:g.65369941T>A GRCh37
NC_000015.8:g.63156994T>A NCBI36
NG_021411.1:g.5788T>A , LRG_682:g.5788T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.788T>A MANE Select ENSP00000388723.2:p.Ile263Asn
ENST00000432196.3:c.788T>A ENSP00000388723.2:p.Ile263Asn
NM_001101362.2:c.788T>A , LRG_682t1:c.788T>A NP_001094832.1:p.Ile263Asn
NM_001101362.3:c.788T>A MANE Select NP_001094832.1:p.Ile263Asn