Canonical Allele Identifier: CA153246
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 129310
dbSNP Id: rs146917406

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077609G>A , CM000677.2:g.65077609G>A GRCh38
NC_000015.9:g.65369947G>A , CM000677.1:g.65369947G>A GRCh37
NC_000015.8:g.63157000G>A NCBI36
NG_021411.1:g.5794G>A , LRG_682:g.5794G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.794G>A MANE Select ENSP00000388723.2:p.Gly265Asp
ENST00000432196.3:n.794G>A ENSP00000388723.2:p.Gly265Asp
NM_001101362.2:n.794G>A , LRG_682t1:n.794G>A NP_001094832.1:p.Gly265Asp
NM_001101362.3:c.794G>A MANE Select NP_001094832.1:p.Gly265Asp