Canonical Allele Identifier: CA271503983
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs998317739
gnomAD v4: 15-65077549-A-C
MyVariant Identifiers: chr15:g.65369887A>C (hg19) chr15:g.65077549A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077549A>C , CM000677.2:g.65077549A>C GRCh38
NC_000015.9:g.65369887A>C , CM000677.1:g.65369887A>C GRCh37
NC_000015.8:g.63156940A>C NCBI36
NG_021411.1:g.5734A>C , LRG_682:g.5734A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.734A>C MANE Select ENSP00000388723.2:p.His245Pro
ENST00000432196.3:c.734A>C ENSP00000388723.2:p.His245Pro
NM_001101362.2:c.734A>C , LRG_682t1:c.734A>C NP_001094832.1:p.His245Pro
NM_001101362.3:c.734A>C MANE Select NP_001094832.1:p.His245Pro
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