Canonical Allele Identifier: CA481011001

Gene: BBS10

Linked Data

• dbSNP Id: rs549089224
• gnomAD v2: 12-76739989-T-G
• gnomAD v4: 12-76346209-T-G
• MyVariant Identifiers: chr12:g.76739989T>G (hg19) ; chr12:g.76346209T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346209T>G , CM000674.2:g.76346209T>G	GRCh38
NC_000012.11:g.76739989T>G , CM000674.1:g.76739989T>G	GRCh37
NC_000012.10:g.75264120T>G	NCBI36
NG_016357.1:g.7234A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1776A>C MANE Select	ENSP00000497413.1:p.Ser592=
ENST00000393262.3:c.1776A>C	ENSP00000376946.3:p.Ser592=
NM_024685.3:c.1776A>C	NP_078961.3:p.Ser592=
NM_024685.4:c.1776A>C MANE Select	NP_078961.3:p.Ser592=