Canonical Allele Identifier: CA760500280

Gene: BBS5

Linked Data

• dbSNP Id: rs1281188133
• gnomAD v3: 2-169492826-A-C
• gnomAD v4: 2-169492826-A-C
• MyVariant Identifiers: chr2:g.170349336A>C (hg19) ; chr2:g.169492826A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169492826A>C , CM000664.2:g.169492826A>C	GRCh38
NC_000002.11:g.170349336A>C , CM000664.1:g.170349336A>C	GRCh37
NC_000002.10:g.170057582A>C	NCBI36
NG_011567.1:g.18331A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.387-48A>C MANE Select	ENSP00000295240.3:n.387-48A>C
ENST00000295240.7:c.387-48A>C	ENSP00000295240.3:n.387-48A>C
ENST00000392663.6:c.387-48A>C	ENSP00000376431.2:n.387-48A>C
ENST00000443151.1:c.*109-48A>C	ENSP00000406182.1:n.*109-48A>C
ENST00000475571.1:n.354-48A>C
ENST00000513963.1:c.387-48A>C	ENSP00000424363.1:n.387-48A>C
NM_152384.2:c.387-48A>C	NP_689597.1:n.387-48A>C
NM_152384.3:c.387-48A>C MANE Select	NP_689597.1:n.387-48A>C