Canonical Allele Identifier: CA392863033
Gene: KBTBD13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077575G>C , CM000677.2:g.65077575G>C GRCh38
NC_000015.9:g.65369913G>C , CM000677.1:g.65369913G>C GRCh37
NC_000015.8:g.63156966G>C NCBI36
NG_021411.1:g.5760G>C , LRG_682:g.5760G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.760G>C MANE Select ENSP00000388723.2:p.Ala254Pro
ENST00000432196.3:c.760G>C ENSP00000388723.2:p.Ala254Pro
NM_001101362.2:c.760G>C , LRG_682t1:c.760G>C NP_001094832.1:p.Ala254Pro
NM_001101362.3:c.760G>C MANE Select NP_001094832.1:p.Ala254Pro