Canonical Allele Identifier: CA16041588
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 370109
ClinVar RCV Id: RCV000410231
dbSNP Id: rs1057516240
MyVariant Identifiers: chr12:g.76741404T>A (hg19) chr12:g.76347624T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347624T>A , CM000674.2:g.76347624T>A GRCh38
NC_000012.11:g.76741404T>A , CM000674.1:g.76741404T>A GRCh37
NC_000012.10:g.75265535T>A NCBI36
NG_016357.1:g.5819A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.361A>T MANE Select ENSP00000497413.1:p.Lys121Ter
ENST00000393262.3:c.361A>T ENSP00000376946.3:p.Lys121Ter
NM_024685.3:c.361A>T NP_078961.3:p.Lys121Ter
NM_024685.4:c.361A>T MANE Select NP_078961.3:p.Lys121Ter
Search 100 bp 5'
Search 100 bp 3'