Canonical Allele Identifier: CA392862474
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077515-G-T
MyVariant Identifiers: chr15:g.65369853G>T (hg19) chr15:g.65077515G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077515G>T , CM000677.2:g.65077515G>T GRCh38
NC_000015.9:g.65369853G>T , CM000677.1:g.65369853G>T GRCh37
NC_000015.8:g.63156906G>T NCBI36
NG_021411.1:g.5700G>T , LRG_682:g.5700G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.700G>T MANE Select ENSP00000388723.2:p.Asp234Tyr
ENST00000432196.3:c.700G>T ENSP00000388723.2:p.Asp234Tyr
NM_001101362.2:c.700G>T , LRG_682t1:c.700G>T NP_001094832.1:p.Asp234Tyr
NM_001101362.3:c.700G>T MANE Select NP_001094832.1:p.Asp234Tyr
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