Canonical Allele Identifier: CA392863406
Gene: KBTBD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.65369952T>G (hg19) chr15:g.65077614T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077614T>G , CM000677.2:g.65077614T>G GRCh38
NC_000015.9:g.65369952T>G , CM000677.1:g.65369952T>G GRCh37
NC_000015.8:g.63157005T>G NCBI36
NG_021411.1:g.5799T>G , LRG_682:g.5799T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.799T>G MANE Select ENSP00000388723.2:p.Phe267Val
ENST00000432196.3:c.799T>G ENSP00000388723.2:p.Phe267Val
NM_001101362.2:c.799T>G , LRG_682t1:c.799T>G NP_001094832.1:p.Phe267Val
NM_001101362.3:c.799T>G MANE Select NP_001094832.1:p.Phe267Val
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