Canonical Allele Identifier: CA392863525
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077621-G-C
MyVariant Identifiers: chr15:g.65369959G>C (hg19) chr15:g.65077621G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077621G>C , CM000677.2:g.65077621G>C GRCh38
NC_000015.9:g.65369959G>C , CM000677.1:g.65369959G>C GRCh37
NC_000015.8:g.63157012G>C NCBI36
NG_021411.1:g.5806G>C , LRG_682:g.5806G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.806G>C MANE Select ENSP00000388723.2:p.Arg269Thr
ENST00000432196.3:c.806G>C ENSP00000388723.2:p.Arg269Thr
NM_001101362.2:c.806G>C , LRG_682t1:c.806G>C NP_001094832.1:p.Arg269Thr
NM_001101362.3:c.806G>C MANE Select NP_001094832.1:p.Arg269Thr
Search 100 bp 5'
Search 100 bp 3'