Canonical Allele Identifier: CA6694077
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs764694032
ExAC: 12:76739819 G / C
gnomAD v2: 12-76739819-G-C
gnomAD v3: 12-76346039-G-C
gnomAD v4: 12-76346039-G-C
MyVariant Identifiers: chr12:g.76739819G>C (hg19) chr12:g.76346039G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346039G>C , CM000674.2:g.76346039G>C GRCh38
NC_000012.11:g.76739819G>C , CM000674.1:g.76739819G>C GRCh37
NC_000012.10:g.75263950G>C NCBI36
NG_016357.1:g.7404C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1946C>G MANE Select ENSP00000497413.1:p.Thr649Arg
ENST00000393262.3:c.1946C>G ENSP00000376946.3:p.Thr649Arg
NM_024685.3:c.1946C>G NP_078961.3:p.Thr649Arg
NM_024685.4:c.1946C>G MANE Select NP_078961.3:p.Thr649Arg
Search 100 bp 5'
Search 100 bp 3'