Canonical Allele Identifier: CA7613988
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 464362
ClinVar RCV Id: RCV000550704 RCV003900165 RCV002530056
dbSNP Id: rs558291810
ExAC: 15:65369968 T / A
gnomAD v2: 15-65369968-T-A
gnomAD v3: 15-65077630-T-A
gnomAD v4: 15-65077630-T-A
MyVariant Identifiers: chr15:g.65369968T>A (hg19) chr15:g.65077630T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077630T>A , CM000677.2:g.65077630T>A GRCh38
NC_000015.9:g.65369968T>A , CM000677.1:g.65369968T>A GRCh37
NC_000015.8:g.63157021T>A NCBI36
NG_021411.1:g.5815T>A , LRG_682:g.5815T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.815T>A MANE Select ENSP00000388723.2:p.Ile272Asn
ENST00000432196.3:c.815T>A ENSP00000388723.2:p.Ile272Asn
NM_001101362.2:c.815T>A , LRG_682t1:c.815T>A NP_001094832.1:p.Ile272Asn
NM_001101362.3:c.815T>A MANE Select NP_001094832.1:p.Ile272Asn
Search 100 bp 5'
Search 100 bp 3'