Canonical Allele Identifier: CA392862591
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077528G>T , CM000677.2:g.65077528G>T GRCh38
NC_000015.9:g.65369866G>T , CM000677.1:g.65369866G>T GRCh37
NC_000015.8:g.63156919G>T NCBI36
NG_021411.1:g.5713G>T , LRG_682:g.5713G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.713G>T MANE Select ENSP00000388723.2:p.Trp238Leu
ENST00000432196.3:c.713G>T ENSP00000388723.2:p.Trp238Leu
NM_001101362.2:c.713G>T , LRG_682t1:c.713G>T NP_001094832.1:p.Trp238Leu
NM_001101362.3:c.713G>T MANE Select NP_001094832.1:p.Trp238Leu