Canonical Allele Identifier: CA392862925
Gene: KBTBD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.65369900T>A (hg19) chr15:g.65077562T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077562T>A , CM000677.2:g.65077562T>A GRCh38
NC_000015.9:g.65369900T>A , CM000677.1:g.65369900T>A GRCh37
NC_000015.8:g.63156953T>A NCBI36
NG_021411.1:g.5747T>A , LRG_682:g.5747T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.747T>A MANE Select ENSP00000388723.2:p.Tyr249Ter
ENST00000432196.3:c.747T>A ENSP00000388723.2:p.Tyr249Ter
NM_001101362.2:c.747T>A , LRG_682t1:c.747T>A NP_001094832.1:p.Tyr249Ter
NM_001101362.3:c.747T>A MANE Select NP_001094832.1:p.Tyr249Ter
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