Canonical Allele Identifier: CA392864830

Gene: KBTBD13

Linked Data

• MyVariant Identifiers: chr15:g.65370133C>T (hg19) ; chr15:g.65077795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077795C>T , CM000677.2:g.65077795C>T	GRCh38
NC_000015.9:g.65370133C>T , CM000677.1:g.65370133C>T	GRCh37
NC_000015.8:g.63157186C>T	NCBI36
NG_021411.1:g.5980C>T , LRG_682:g.5980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.980C>T MANE Select	ENSP00000388723.2:p.Thr327Ile
ENST00000432196.3:c.980C>T	ENSP00000388723.2:p.Thr327Ile
NM_001101362.2:c.980C>T , LRG_682t1:c.980C>T	NP_001094832.1:p.Thr327Ile
NM_001101362.3:c.980C>T MANE Select	NP_001094832.1:p.Thr327Ile