Canonical Allele Identifier: CA392862403
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs2086993063
gnomAD v4: 15-65077509-G-A
MyVariant Identifiers: chr15:g.65369847G>A (hg19) chr15:g.65077509G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077509G>A , CM000677.2:g.65077509G>A GRCh38
NC_000015.9:g.65369847G>A , CM000677.1:g.65369847G>A GRCh37
NC_000015.8:g.63156900G>A NCBI36
NG_021411.1:g.5694G>A , LRG_682:g.5694G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.694G>A MANE Select ENSP00000388723.2:p.Asp232Asn
ENST00000432196.3:c.694G>A ENSP00000388723.2:p.Asp232Asn
NM_001101362.2:c.694G>A , LRG_682t1:c.694G>A NP_001094832.1:p.Asp232Asn
NM_001101362.3:c.694G>A MANE Select NP_001094832.1:p.Asp232Asn
Search 100 bp 5'
Search 100 bp 3'