Canonical Allele Identifier: CA392864838
Gene: KBTBD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.65370136A>C (hg19) chr15:g.65077798A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077798A>C , CM000677.2:g.65077798A>C GRCh38
NC_000015.9:g.65370136A>C , CM000677.1:g.65370136A>C GRCh37
NC_000015.8:g.63157189A>C NCBI36
NG_021411.1:g.5983A>C , LRG_682:g.5983A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.983A>C MANE Select ENSP00000388723.2:p.Asp328Ala
ENST00000432196.3:c.983A>C ENSP00000388723.2:p.Asp328Ala
NM_001101362.2:c.983A>C , LRG_682t1:c.983A>C NP_001094832.1:p.Asp328Ala
NM_001101362.3:c.983A>C MANE Select NP_001094832.1:p.Asp328Ala
Search 100 bp 5'
Search 100 bp 3'