Canonical Allele Identifier: CA179794
Community Standard Title: NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
Gene: BBS5 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169493769A>G , CM000664.2:g.169493769A>G GRCh38
NC_000002.11:g.170350279A>G , CM000664.1:g.170350279A>G GRCh37
NC_000002.10:g.170058525A>G NCBI36
NG_011567.1:g.19274A>G

Transcript Alleles

HGVS Amino-acid Change
NM_152384.3:c.551A>G MANE Select NP_689597.1:p.Asn184Ser
ENST00000295240.8:c.551A>G MANE Select ENSP00000295240.3:p.Asn184Ser
NM_152384.2:c.551A>G NP_689597.1:p.Asn184Ser
ENST00000295240.7:c.551A>G ENSP00000295240.3:p.Asn184Ser
ENST00000392663.6:c.551A>G ENSP00000376431.2:p.Asn184Ser
ENST00000443151.1:c.*273A>G ENSP00000406182.1:n.*273A>G
ENST00000513963.1:c.551A>G ENSP00000424363.1:p.Asn184Ser
Search 100 bp 5'
Search 100 bp 3'