Canonical Allele Identifier: CA490899080
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs1566960170
gnomAD v4: 15-65077577-C-T
MyVariant Identifiers: chr15:g.65369915C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077577C>T , CM000677.2:g.65077577C>T GRCh38
NC_000015.9:g.65369915C>T , CM000677.1:g.65369915C>T GRCh37
NC_000015.8:g.63156968C>T NCBI36
NG_021411.1:g.5762C>T , LRG_682:g.5762C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.762C>T MANE Select ENSP00000388723.2:p.Ala254=
ENST00000432196.3:c.762C>T ENSP00000388723.2:p.Ala254=
NM_001101362.2:c.762C>T , LRG_682t1:c.762C>T NP_001094832.1:p.Ala254=
NM_001101362.3:c.762C>T MANE Select NP_001094832.1:p.Ala254=
Search 100 bp 5'
Search 100 bp 3'