Canonical Allele Identifier: CA490899067
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 719766
ClinVar RCV Id: RCV001418855
dbSNP Id: rs1431328866
gnomAD v4: 15-65077571-G-T
MyVariant Identifiers: chr15:g.65369909G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077571G>T , CM000677.2:g.65077571G>T GRCh38
NC_000015.9:g.65369909G>T , CM000677.1:g.65369909G>T GRCh37
NC_000015.8:g.63156962G>T NCBI36
NG_021411.1:g.5756G>T , LRG_682:g.5756G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.756G>T MANE Select ENSP00000388723.2:p.Ala252=
ENST00000432196.3:c.756G>T ENSP00000388723.2:p.Ala252=
NM_001101362.2:c.756G>T , LRG_682t1:c.756G>T NP_001094832.1:p.Ala252=
NM_001101362.3:c.756G>T MANE Select NP_001094832.1:p.Ala252=
Search 100 bp 5'
Search 100 bp 3'