Canonical Allele Identifier: CA392863140
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077587G>C , CM000677.2:g.65077587G>C GRCh38
NC_000015.9:g.65369925G>C , CM000677.1:g.65369925G>C GRCh37
NC_000015.8:g.63156978G>C NCBI36
NG_021411.1:g.5772G>C , LRG_682:g.5772G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.772G>C MANE Select ENSP00000388723.2:p.Gly258Arg
ENST00000432196.3:c.772G>C ENSP00000388723.2:p.Gly258Arg
NM_001101362.2:c.772G>C , LRG_682t1:c.772G>C NP_001094832.1:p.Gly258Arg
NM_001101362.3:c.772G>C MANE Select NP_001094832.1:p.Gly258Arg