Canonical Allele Identifier: CA490899160

Gene: KBTBD13

Linked Data

• gnomAD v4: 15-65077616-C-T
• MyVariant Identifiers: chr15:g.65369954C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077616C>T , CM000677.2:g.65077616C>T	GRCh38
NC_000015.9:g.65369954C>T , CM000677.1:g.65369954C>T	GRCh37
NC_000015.8:g.63157007C>T	NCBI36
NG_021411.1:g.5801C>T , LRG_682:g.5801C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.801C>T MANE Select	ENSP00000388723.2:p.Phe267=
ENST00000432196.3:c.801C>T	ENSP00000388723.2:p.Phe267=
NM_001101362.2:c.801C>T , LRG_682t1:c.801C>T	NP_001094832.1:p.Phe267=
NM_001101362.3:c.801C>T MANE Select	NP_001094832.1:p.Phe267=