Canonical Allele Identifier: CA490898977
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420026
ClinVar RCV Id: RCV003118551
dbSNP Id: rs1381775614
gnomAD v2: 15-65370140-G-A
gnomAD v4: 15-65077802-G-A
MyVariant Identifiers: chr15:g.65370140G>A (hg19) chr15:g.65077802G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077802G>A , CM000677.2:g.65077802G>A GRCh38
NC_000015.9:g.65370140G>A , CM000677.1:g.65370140G>A GRCh37
NC_000015.8:g.63157193G>A NCBI36
NG_021411.1:g.5987G>A , LRG_682:g.5987G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.987G>A MANE Select ENSP00000388723.2:p.Ala329=
ENST00000432196.3:c.987G>A ENSP00000388723.2:p.Ala329=
NM_001101362.2:c.987G>A , LRG_682t1:c.987G>A NP_001094832.1:p.Ala329=
NM_001101362.3:c.987G>A MANE Select NP_001094832.1:p.Ala329=
Search 100 bp 5'
Search 100 bp 3'