Canonical Allele Identifier: CA271504068
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 947429
ClinVar RCV Id: RCV001218506
dbSNP Id: rs764697405
gnomAD v2: 15-65369946-G-A
gnomAD v3: 15-65077608-G-A
gnomAD v4: 15-65077608-G-A
MyVariant Identifiers: chr15:g.65369946G>A (hg19) chr15:g.65077608G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077608G>A , CM000677.2:g.65077608G>A GRCh38
NC_000015.9:g.65369946G>A , CM000677.1:g.65369946G>A GRCh37
NC_000015.8:g.63156999G>A NCBI36
NG_021411.1:g.5793G>A , LRG_682:g.5793G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.793G>A MANE Select ENSP00000388723.2:p.Gly265Ser
ENST00000432196.3:c.793G>A ENSP00000388723.2:p.Gly265Ser
NM_001101362.2:c.793G>A , LRG_682t1:c.793G>A NP_001094832.1:p.Gly265Ser
NM_001101362.3:c.793G>A MANE Select NP_001094832.1:p.Gly265Ser
Search 100 bp 5'
Search 100 bp 3'