Canonical Allele Identifier: CA392863159
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077590-C-A
MyVariant Identifiers: chr15:g.65369928C>A (hg19) chr15:g.65077590C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077590C>A , CM000677.2:g.65077590C>A GRCh38
NC_000015.9:g.65369928C>A , CM000677.1:g.65369928C>A GRCh37
NC_000015.8:g.63156981C>A NCBI36
NG_021411.1:g.5775C>A , LRG_682:g.5775C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.775C>A MANE Select ENSP00000388723.2:p.Arg259Ser
ENST00000432196.3:c.775C>A ENSP00000388723.2:p.Arg259Ser
NM_001101362.2:c.775C>A , LRG_682t1:c.775C>A NP_001094832.1:p.Arg259Ser
NM_001101362.3:c.775C>A MANE Select NP_001094832.1:p.Arg259Ser
Search 100 bp 5'
Search 100 bp 3'