Canonical Allele Identifier: CA271504169
Gene: KBTBD13 HGNC NCBI

Linked Data

dbSNP Id: rs975889553
gnomAD v4: 15-65077628-C-T
MyVariant Identifiers: chr15:g.65369966C>T (hg19) chr15:g.65077628C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077628C>T , CM000677.2:g.65077628C>T GRCh38
NC_000015.9:g.65369966C>T , CM000677.1:g.65369966C>T GRCh37
NC_000015.8:g.63157019C>T NCBI36
NG_021411.1:g.5813C>T , LRG_682:g.5813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.813C>T MANE Select ENSP00000388723.2:p.Pro271=
ENST00000432196.3:c.813C>T ENSP00000388723.2:p.Pro271=
NM_001101362.2:c.813C>T , LRG_682t1:c.813C>T NP_001094832.1:p.Pro271=
NM_001101362.3:c.813C>T MANE Select NP_001094832.1:p.Pro271=
Search 100 bp 5'
Search 100 bp 3'