Canonical Allele Identifier: CA392861694
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs1364669643
gnomAD v4: 15-65077416-C-A
MyVariant Identifiers: chr15:g.65369754C>A (hg19) chr15:g.65077416C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077416C>A , CM000677.2:g.65077416C>A GRCh38
NC_000015.9:g.65369754C>A , CM000677.1:g.65369754C>A GRCh37
NC_000015.8:g.63156807C>A NCBI36
NG_021411.1:g.5601C>A , LRG_682:g.5601C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.601C>A MANE Select ENSP00000388723.2:p.Leu201Met
ENST00000432196.3:c.601C>A ENSP00000388723.2:p.Leu201Met
NM_001101362.2:c.601C>A , LRG_682t1:c.601C>A NP_001094832.1:p.Leu201Met
NM_001101362.3:c.601C>A MANE Select NP_001094832.1:p.Leu201Met
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