Canonical Allele Identifier: CA490899127
Gene: KBTBD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.65369939C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077601C>T , CM000677.2:g.65077601C>T GRCh38
NC_000015.9:g.65369939C>T , CM000677.1:g.65369939C>T GRCh37
NC_000015.8:g.63156992C>T NCBI36
NG_021411.1:g.5786C>T , LRG_682:g.5786C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.786C>T MANE Select ENSP00000388723.2:p.Ala262=
ENST00000432196.3:c.786C>T ENSP00000388723.2:p.Ala262=
NM_001101362.2:c.786C>T , LRG_682t1:c.786C>T NP_001094832.1:p.Ala262=
NM_001101362.3:c.786C>T MANE Select NP_001094832.1:p.Ala262=