Canonical Allele Identifier: CA7614061

Gene: KBTBD13

Linked Data

• ClinVar Variation Id: 257450
• ClinVar RCV Id: RCV000254482 ; RCV000556370
• dbSNP Id: rs199526404
• ExAC: 15:65370230 A / G
• gnomAD v2: 15-65370230-A-G
• gnomAD v3: 15-65077892-A-G
• gnomAD v4: 15-65077892-A-G
• MyVariant Identifiers: chr15:g.65370230A>G (hg19) ; chr15:g.65077892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077892A>G , CM000677.2:g.65077892A>G	GRCh38
NC_000015.9:g.65370230A>G , CM000677.1:g.65370230A>G	GRCh37
NC_000015.8:g.63157283A>G	NCBI36
NG_021411.1:g.6077A>G , LRG_682:g.6077A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432196.5:c.1077A>G MANE Select	ENSP00000388723.2:p.Gly359=
ENST00000432196.3:c.1077A>G	ENSP00000388723.2:p.Gly359=
NM_001101362.2:c.1077A>G , LRG_682t1:c.1077A>G	NP_001094832.1:p.Gly359=
NM_001101362.3:c.1077A>G MANE Select	NP_001094832.1:p.Gly359=