Canonical Allele Identifier: CA349161655
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs1345821578
MyVariant Identifiers: chr2:g.170344363T>C (hg19) chr2:g.169487853T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487853T>C , CM000664.2:g.169487853T>C GRCh38
NC_000002.11:g.170344363T>C , CM000664.1:g.170344363T>C GRCh37
NC_000002.10:g.170052609T>C NCBI36
NG_011567.1:g.13358T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.256T>C MANE Select ENSP00000295240.3:p.Ser86Pro
ENST00000295240.7:c.256T>C ENSP00000295240.3:p.Ser86Pro
ENST00000392663.6:c.256T>C ENSP00000376431.2:p.Ser86Pro
ENST00000443151.1:c.143-134T>C ENSP00000406182.1:n.143-134T>C
ENST00000475571.1:n.92T>C
ENST00000513963.1:c.256T>C ENSP00000424363.1:p.Ser86Pro
NM_152384.2:c.256T>C NP_689597.1:p.Ser86Pro
NM_152384.3:c.256T>C MANE Select NP_689597.1:p.Ser86Pro
Search 100 bp 5'
Search 100 bp 3'