Canonical Allele Identifier: CA392864082
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2968677
ClinVar RCV Id: RCV003829323

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077677G>A , CM000677.2:g.65077677G>A GRCh38
NC_000015.9:g.65370015G>A , CM000677.1:g.65370015G>A GRCh37
NC_000015.8:g.63157068G>A NCBI36
NG_021411.1:g.5862G>A , LRG_682:g.5862G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.862G>A MANE Select ENSP00000388723.2:p.Val288Met
ENST00000432196.3:c.862G>A ENSP00000388723.2:p.Val288Met
NM_001101362.2:c.862G>A , LRG_682t1:c.862G>A NP_001094832.1:p.Val288Met
NM_001101362.3:c.862G>A MANE Select NP_001094832.1:p.Val288Met