Canonical Allele Identifier: CA153243
Gene: KBTBD13 HGNC NCBI
COSMIC:
COSM3754413 (not active)
MyVariant.info:
GRCh38 chr15:g.65077193G>T
GRCh37 chr15:g.65369531G>T
gnomAD v2:
15:65369531 G / T
gnomAD v3:
15:65077193 G / T
gnomAD v4:
chr15-65077193-G-T
Joint Max Group AF 0.72736254 (EAS)
Genomes Max Group AF 0.69223359 (EAS)
Exomes Max Group AF 0.73051794 (EAS)
ClinVar RCV:
RCV000117310
RCV000315819
ClinVar Variation:
129309
dbSNP:
2946642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077193G>T , CM000677.2:g.65077193G>T GRCh38
NC_000015.9:g.65369531G>T , CM000677.1:g.65369531G>T GRCh37
NC_000015.8:g.63156584G>T NCBI36
NG_021411.1:g.5378G>T , LRG_682:g.5378G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.378G>T MANE Select ENSP00000388723.2:p.Ala126=
ENST00000432196.3:c.378G>T ENSP00000388723.2:p.Ala126=
NM_001101362.2:c.378G>T , LRG_682t1:c.378G>T NP_001094832.1:p.Ala126=
NM_001101362.3:c.378G>T MANE Select NP_001094832.1:p.Ala126=
Search 100 bp 5'
Search 100 bp 3'