Canonical Allele Identifier: CA392863469
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077617C>G , CM000677.2:g.65077617C>G GRCh38
NC_000015.9:g.65369955C>G , CM000677.1:g.65369955C>G GRCh37
NC_000015.8:g.63157008C>G NCBI36
NG_021411.1:g.5802C>G , LRG_682:g.5802C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.802C>G MANE Select ENSP00000388723.2:p.Gln268Glu
ENST00000432196.3:c.802C>G ENSP00000388723.2:p.Gln268Glu
NM_001101362.2:c.802C>G , LRG_682t1:c.802C>G NP_001094832.1:p.Gln268Glu
NM_001101362.3:c.802C>G MANE Select NP_001094832.1:p.Gln268Glu