Canonical Allele Identifier: CA392862639
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs1293899823
gnomAD v2: 15-65369871-G-T
gnomAD v4: 15-65077533-G-T
MyVariant Identifiers: chr15:g.65369871G>T (hg19) chr15:g.65077533G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077533G>T , CM000677.2:g.65077533G>T GRCh38
NC_000015.9:g.65369871G>T , CM000677.1:g.65369871G>T GRCh37
NC_000015.8:g.63156924G>T NCBI36
NG_021411.1:g.5718G>T , LRG_682:g.5718G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.718G>T MANE Select ENSP00000388723.2:p.Glu240Ter
ENST00000432196.3:c.718G>T ENSP00000388723.2:p.Glu240Ter
NM_001101362.2:c.718G>T , LRG_682t1:c.718G>T NP_001094832.1:p.Glu240Ter
NM_001101362.3:c.718G>T MANE Select NP_001094832.1:p.Glu240Ter
Search 100 bp 5'
Search 100 bp 3'