Canonical Allele Identifier: CA392864821

Gene: KBTBD13

Linked Data

• MyVariant Identifiers: chr15:g.65370130G>T (hg19) ; chr15:g.65077792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077792G>T , CM000677.2:g.65077792G>T	GRCh38
NC_000015.9:g.65370130G>T , CM000677.1:g.65370130G>T	GRCh37
NC_000015.8:g.63157183G>T	NCBI36
NG_021411.1:g.5977G>T , LRG_682:g.5977G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.977G>T MANE Select	ENSP00000388723.2:p.Arg326Leu
ENST00000432196.3:c.977G>T	ENSP00000388723.2:p.Arg326Leu
NM_001101362.2:c.977G>T , LRG_682t1:c.977G>T	NP_001094832.1:p.Arg326Leu
NM_001101362.3:c.977G>T MANE Select	NP_001094832.1:p.Arg326Leu