Canonical Allele Identifier: CA392863514
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077620A>T , CM000677.2:g.65077620A>T GRCh38
NC_000015.9:g.65369958A>T , CM000677.1:g.65369958A>T GRCh37
NC_000015.8:g.63157011A>T NCBI36
NG_021411.1:g.5805A>T , LRG_682:g.5805A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.805A>T MANE Select ENSP00000388723.2:p.Arg269Trp
ENST00000432196.3:c.805A>T ENSP00000388723.2:p.Arg269Trp
NM_001101362.2:c.805A>T , LRG_682t1:c.805A>T NP_001094832.1:p.Arg269Trp
NM_001101362.3:c.805A>T MANE Select NP_001094832.1:p.Arg269Trp