Canonical Allele Identifier: CA153249

Gene: KBTBD13

Linked Data

• ClinVar Variation Id: 129311
• ClinVar RCV Id: RCV000117312 ; RCV000989345
• dbSNP Id: rs2919359
• ExAC: 15:65369951 A / G
• gnomAD v2: 15-65369951-A-G
• gnomAD v3: 15-65077613-A-G
• gnomAD v4: 15-65077613-A-G
• MyVariant Identifiers: chr15:g.65369951A>G (hg19) ; chr15:g.65077613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077613A>G , CM000677.2:g.65077613A>G	GRCh38
NC_000015.9:g.65369951A>G , CM000677.1:g.65369951A>G	GRCh37
NC_000015.8:g.63157004A>G	NCBI36
NG_021411.1:g.5798A>G , LRG_682:g.5798A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.798A>G MANE Select	ENSP00000388723.2:p.Glu266=
ENST00000432196.3:c.798A>G	ENSP00000388723.2:p.Glu266=
NM_001101362.2:c.798A>G , LRG_682t1:c.798A>G	NP_001094832.1:p.Glu266=
NM_001101362.3:c.798A>G MANE Select	NP_001094832.1:p.Glu266=