Canonical Allele Identifier: CA385808763
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739806G>C (hg19) chr12:g.76346026G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346026G>C , CM000674.2:g.76346026G>C GRCh38
NC_000012.11:g.76739806G>C , CM000674.1:g.76739806G>C GRCh37
NC_000012.10:g.75263937G>C NCBI36
NG_016357.1:g.7417C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1959C>G MANE Select ENSP00000497413.1:p.Ser653Arg
ENST00000393262.3:c.1959C>G ENSP00000376946.3:p.Ser653Arg
NM_024685.3:c.1959C>G NP_078961.3:p.Ser653Arg
NM_024685.4:c.1959C>G MANE Select NP_078961.3:p.Ser653Arg
Search 100 bp 5'
Search 100 bp 3'