Canonical Allele Identifier: CA392863163
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs1344170084
gnomAD v2: 15-65369929-G-A
gnomAD v3: 15-65077591-G-A
gnomAD v4: 15-65077591-G-A
COSMIC: COSM5363162
MyVariant Identifiers: chr15:g.65369929G>A (hg19) chr15:g.65077591G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077591G>A , CM000677.2:g.65077591G>A GRCh38
NC_000015.9:g.65369929G>A , CM000677.1:g.65369929G>A GRCh37
NC_000015.8:g.63156982G>A NCBI36
NG_021411.1:g.5776G>A , LRG_682:g.5776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.776G>A MANE Select ENSP00000388723.2:p.Arg259His
ENST00000432196.3:c.776G>A ENSP00000388723.2:p.Arg259His
NM_001101362.2:c.776G>A , LRG_682t1:c.776G>A NP_001094832.1:p.Arg259His
NM_001101362.3:c.776G>A MANE Select NP_001094832.1:p.Arg259His
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