Canonical Allele Identifier: CA490898957

Gene: KBTBD13

Linked Data

• gnomAD v4: 15-65077793-G-T
• MyVariant Identifiers: chr15:g.65370131G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077793G>T , CM000677.2:g.65077793G>T	GRCh38
NC_000015.9:g.65370131G>T , CM000677.1:g.65370131G>T	GRCh37
NC_000015.8:g.63157184G>T	NCBI36
NG_021411.1:g.5978G>T , LRG_682:g.5978G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.978G>T MANE Select	ENSP00000388723.2:p.Arg326=
ENST00000432196.3:c.978G>T	ENSP00000388723.2:p.Arg326=
NM_001101362.2:c.978G>T , LRG_682t1:c.978G>T	NP_001094832.1:p.Arg326=
NM_001101362.3:c.978G>T MANE Select	NP_001094832.1:p.Arg326=