Canonical Allele Identifier: CA392864843
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077799-C-A
MyVariant Identifiers: chr15:g.65370137C>A (hg19) chr15:g.65077799C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077799C>A , CM000677.2:g.65077799C>A GRCh38
NC_000015.9:g.65370137C>A , CM000677.1:g.65370137C>A GRCh37
NC_000015.8:g.63157190C>A NCBI36
NG_021411.1:g.5984C>A , LRG_682:g.5984C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.984C>A MANE Select ENSP00000388723.2:p.Asp328Glu
ENST00000432196.3:c.984C>A ENSP00000388723.2:p.Asp328Glu
NM_001101362.2:c.984C>A , LRG_682t1:c.984C>A NP_001094832.1:p.Asp328Glu
NM_001101362.3:c.984C>A MANE Select NP_001094832.1:p.Asp328Glu
Search 100 bp 5'
Search 100 bp 3'