Canonical Allele Identifier: CA259981
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 31062
ClinVar RCV Id: RCV000024056
dbSNP Id: rs387907090
MyVariant Identifiers: chr15:g.65370375C>T (hg19) chr15:g.65078037C>T (hg38)
PubMed: PMID:12805120 PMID:21109227
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65078037C>T , CM000677.2:g.65078037C>T GRCh38
NC_000015.9:g.65370375C>T , CM000677.1:g.65370375C>T GRCh37
NC_000015.8:g.63157428C>T NCBI36
NG_021411.1:g.6222C>T , LRG_682:g.6222C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.1222C>T MANE Select ENSP00000388723.2:p.Arg408Cys
ENST00000432196.3:c.1222C>T ENSP00000388723.2:p.Arg408Cys
NM_001101362.2:c.1222C>T , LRG_682t1:c.1222C>T NP_001094832.1:p.Arg408Cys
NM_001101362.3:c.1222C>T MANE Select NP_001094832.1:p.Arg408Cys
Search 100 bp 5'
Search 100 bp 3'