Canonical Allele Identifier: CA392862829

Gene: KBTBD13

Linked Data

• MyVariant Identifiers: chr15:g.65369890A>T (hg19) ; chr15:g.65077552A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077552A>T , CM000677.2:g.65077552A>T	GRCh38
NC_000015.9:g.65369890A>T , CM000677.1:g.65369890A>T	GRCh37
NC_000015.8:g.63156943A>T	NCBI36
NG_021411.1:g.5737A>T , LRG_682:g.5737A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.737A>T MANE Select	ENSP00000388723.2:p.Gln246Leu
ENST00000432196.3:c.737A>T	ENSP00000388723.2:p.Gln246Leu
NM_001101362.2:c.737A>T , LRG_682t1:c.737A>T	NP_001094832.1:p.Gln246Leu
NM_001101362.3:c.737A>T MANE Select	NP_001094832.1:p.Gln246Leu