Canonical Allele Identifier: CA385813920
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740921G>A (hg19) chr12:g.76347141G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347141G>A , CM000674.2:g.76347141G>A GRCh38
NC_000012.11:g.76740921G>A , CM000674.1:g.76740921G>A GRCh37
NC_000012.10:g.75265052G>A NCBI36
NG_016357.1:g.6302C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.844C>T MANE Select ENSP00000497413.1:p.Gln282Ter
ENST00000393262.3:c.844C>T ENSP00000376946.3:p.Gln282Ter
NM_024685.3:c.844C>T NP_078961.3:p.Gln282Ter
NM_024685.4:c.844C>T MANE Select NP_078961.3:p.Gln282Ter
Search 100 bp 5'
Search 100 bp 3'