Canonical Allele Identifier: CA2183440221
Gene: KBTBD13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077570C= , CM000677.2:g.65077570C= GRCh38
NC_000015.9:g.65369908C= , CM000677.1:g.65369908C= GRCh37
NC_000015.8:g.63156961C= NCBI36
NG_021411.1:g.5755C= , LRG_682:g.5755C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.755C= MANE Select ENSP00000388723.2:p.Ala252=
ENST00000432196.3:c.755C= ENSP00000388723.2:p.Ala252=
NM_001101362.2:c.755C= , LRG_682t1:c.755C= NP_001094832.1:p.Ala252=
NM_001101362.3:c.755C= MANE Select NP_001094832.1:p.Ala252=
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