Canonical Allele Identifier: CA385810284
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740033A>G (hg19) chr12:g.76346253A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346253A>G , CM000674.2:g.76346253A>G GRCh38
NC_000012.11:g.76740033A>G , CM000674.1:g.76740033A>G GRCh37
NC_000012.10:g.75264164A>G NCBI36
NG_016357.1:g.7190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1732T>C MANE Select ENSP00000497413.1:p.Cys578Arg
ENST00000393262.3:c.1732T>C ENSP00000376946.3:p.Cys578Arg
NM_024685.3:c.1732T>C NP_078961.3:p.Cys578Arg
NM_024685.4:c.1732T>C MANE Select NP_078961.3:p.Cys578Arg
Search 100 bp 5'
Search 100 bp 3'