Canonical Allele Identifier: CA7613969
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 316745
ClinVar RCV Id: RCV000291407
dbSNP Id: rs757250245
ExAC: 15:65369904 A / G
gnomAD v2: 15-65369904-A-G
gnomAD v3: 15-65077566-A-G
gnomAD v4: 15-65077566-A-G
MyVariant Identifiers: chr15:g.65369904A>G (hg19) chr15:g.65077566A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077566A>G , CM000677.2:g.65077566A>G GRCh38
NC_000015.9:g.65369904A>G , CM000677.1:g.65369904A>G GRCh37
NC_000015.8:g.63156957A>G NCBI36
NG_021411.1:g.5751A>G , LRG_682:g.5751A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.751A>G MANE Select ENSP00000388723.2:p.Thr251Ala
ENST00000432196.3:c.751A>G ENSP00000388723.2:p.Thr251Ala
NM_001101362.2:c.751A>G , LRG_682t1:c.751A>G NP_001094832.1:p.Thr251Ala
NM_001101362.3:c.751A>G MANE Select NP_001094832.1:p.Thr251Ala
Search 100 bp 5'
Search 100 bp 3'