Canonical Allele Identifier: CA429922357
Gene: BBS5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170344365T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487855T>C , CM000664.2:g.169487855T>C GRCh38
NC_000002.11:g.170344365T>C , CM000664.1:g.170344365T>C GRCh37
NC_000002.10:g.170052611T>C NCBI36
NG_011567.1:g.13360T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.258T>C MANE Select ENSP00000295240.3:p.Ser86=
ENST00000295240.7:c.258T>C ENSP00000295240.3:p.Ser86=
ENST00000392663.6:c.258T>C ENSP00000376431.2:p.Ser86=
ENST00000443151.1:c.143-132T>C ENSP00000406182.1:n.143-132T>C
ENST00000475571.1:n.94T>C
ENST00000513963.1:c.258T>C ENSP00000424363.1:p.Ser86=
NM_152384.2:c.258T>C NP_689597.1:p.Ser86=
NM_152384.3:c.258T>C MANE Select NP_689597.1:p.Ser86=
Search 100 bp 5'
Search 100 bp 3'