Canonical Allele Identifier: CA271504141
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 533008
ClinVar RCV Id: RCV000639968
dbSNP Id: rs912566376
gnomAD v2: 15-65369963-G-C
gnomAD v3: 15-65077625-G-C
gnomAD v4: 15-65077625-G-C
MyVariant Identifiers: chr15:g.65369963G>C (hg19) chr15:g.65077625G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077625G>C , CM000677.2:g.65077625G>C GRCh38
NC_000015.9:g.65369963G>C , CM000677.1:g.65369963G>C GRCh37
NC_000015.8:g.63157016G>C NCBI36
NG_021411.1:g.5810G>C , LRG_682:g.5810G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.810G>C MANE Select ENSP00000388723.2:p.Thr270=
ENST00000432196.3:c.810G>C ENSP00000388723.2:p.Thr270=
NM_001101362.2:c.810G>C , LRG_682t1:c.810G>C NP_001094832.1:p.Thr270=
NM_001101362.3:c.810G>C MANE Select NP_001094832.1:p.Thr270=
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Search 100 bp 3'