Canonical Allele Identifier: CA392864848
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520742
ClinVar RCV Id: RCV002027699
dbSNP Id: rs1158844505
gnomAD v2: 15-65370138-G-C
gnomAD v3: 15-65077800-G-C
gnomAD v4: 15-65077800-G-C
MyVariant Identifiers: chr15:g.65370138G>C (hg19) chr15:g.65077800G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077800G>C , CM000677.2:g.65077800G>C GRCh38
NC_000015.9:g.65370138G>C , CM000677.1:g.65370138G>C GRCh37
NC_000015.8:g.63157191G>C NCBI36
NG_021411.1:g.5985G>C , LRG_682:g.5985G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.985G>C MANE Select ENSP00000388723.2:p.Ala329Pro
ENST00000432196.3:c.985G>C ENSP00000388723.2:p.Ala329Pro
NM_001101362.2:c.985G>C , LRG_682t1:c.985G>C NP_001094832.1:p.Ala329Pro
NM_001101362.3:c.985G>C MANE Select NP_001094832.1:p.Ala329Pro
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