Canonical Allele Identifier: CA6694378
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs762996195
ExAC: 12:76741511 G / T
gnomAD v2: 12-76741511-G-T
gnomAD v4: 12-76347731-G-T
MyVariant Identifiers: chr12:g.76741511G>T (hg19) chr12:g.76347731G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347731G>T , CM000674.2:g.76347731G>T GRCh38
NC_000012.11:g.76741511G>T , CM000674.1:g.76741511G>T GRCh37
NC_000012.10:g.75265642G>T NCBI36
NG_016357.1:g.5712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.254C>A MANE Select ENSP00000497413.1:p.Thr85Lys
ENST00000393262.3:c.254C>A ENSP00000376946.3:p.Thr85Lys
NM_024685.3:c.254C>A NP_078961.3:p.Thr85Lys
NM_024685.4:c.254C>A MANE Select NP_078961.3:p.Thr85Lys
Search 100 bp 5'
Search 100 bp 3'