Canonical Allele Identifier: CA392862927

Gene: KBTBD13

Linked Data

• MyVariant Identifiers: chr15:g.65369900T>G (hg19) ; chr15:g.65077562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077562T>G , CM000677.2:g.65077562T>G	GRCh38
NC_000015.9:g.65369900T>G , CM000677.1:g.65369900T>G	GRCh37
NC_000015.8:g.63156953T>G	NCBI36
NG_021411.1:g.5747T>G , LRG_682:g.5747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.747T>G MANE Select	ENSP00000388723.2:p.Tyr249Ter
ENST00000432196.3:c.747T>G	ENSP00000388723.2:p.Tyr249Ter
NM_001101362.2:c.747T>G , LRG_682t1:c.747T>G	NP_001094832.1:p.Tyr249Ter
NM_001101362.3:c.747T>G MANE Select	NP_001094832.1:p.Tyr249Ter