Canonical Allele Identifier: CA392863509
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs1400387001
gnomAD v3: 15-65077620-A-G
gnomAD v4: 15-65077620-A-G
MyVariant Identifiers: chr15:g.65369958A>G (hg19) chr15:g.65077620A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077620A>G , CM000677.2:g.65077620A>G GRCh38
NC_000015.9:g.65369958A>G , CM000677.1:g.65369958A>G GRCh37
NC_000015.8:g.63157011A>G NCBI36
NG_021411.1:g.5805A>G , LRG_682:g.5805A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.805A>G MANE Select ENSP00000388723.2:p.Arg269Gly
ENST00000432196.3:c.805A>G ENSP00000388723.2:p.Arg269Gly
NM_001101362.2:c.805A>G , LRG_682t1:c.805A>G NP_001094832.1:p.Arg269Gly
NM_001101362.3:c.805A>G MANE Select NP_001094832.1:p.Arg269Gly
Search 100 bp 5'
Search 100 bp 3'