Canonical Allele Identifier: CA392864849
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 656627
ClinVar RCV Id: RCV000813089
dbSNP Id: rs1158844505
gnomAD v4: 15-65077800-G-T
MyVariant Identifiers: chr15:g.65370138G>T (hg19) chr15:g.65077800G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.985G>T MANE Select ENSP00000388723.2:p.Ala329Ser
ENST00000432196.3:c.985G>T ENSP00000388723.2:p.Ala329Ser
NM_001101362.2:c.985G>T , LRG_682t1:c.985G>T NP_001094832.1:p.Ala329Ser
NM_001101362.3:c.985G>T MANE Select NP_001094832.1:p.Ala329Ser
Search 100 bp 5'
Search 100 bp 3'