Canonical Allele Identifier: CA392863225
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2157012
ClinVar RCV Id: RCV003077873
dbSNP Id: rs2086995339
gnomAD v4: 15-65077599-G-A
MyVariant Identifiers: chr15:g.65369937G>A (hg19) chr15:g.65077599G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077599G>A , CM000677.2:g.65077599G>A GRCh38
NC_000015.9:g.65369937G>A , CM000677.1:g.65369937G>A GRCh37
NC_000015.8:g.63156990G>A NCBI36
NG_021411.1:g.5784G>A , LRG_682:g.5784G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.784G>A MANE Select ENSP00000388723.2:p.Ala262Thr
ENST00000432196.3:c.784G>A ENSP00000388723.2:p.Ala262Thr
NM_001101362.2:c.784G>A , LRG_682t1:c.784G>A NP_001094832.1:p.Ala262Thr
NM_001101362.3:c.784G>A MANE Select NP_001094832.1:p.Ala262Thr
Search 100 bp 5'
Search 100 bp 3'