Canonical Allele Identifier: CA760527430
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs1487750878
MyVariant Identifiers: chr2:g.170344249T>A (hg19) chr2:g.169487739T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487739T>A , CM000664.2:g.169487739T>A GRCh38
NC_000002.11:g.170344249T>A , CM000664.1:g.170344249T>A GRCh37
NC_000002.10:g.170052495T>A NCBI36
NG_011567.1:g.13244T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.209-67T>A MANE Select ENSP00000295240.3:n.209-67T>A
ENST00000295240.7:c.209-67T>A ENSP00000295240.3:n.209-67T>A
ENST00000392663.6:c.209-67T>A ENSP00000376431.2:n.209-67T>A
ENST00000443151.1:c.143-248T>A ENSP00000406182.1:n.143-248T>A
ENST00000513963.1:c.209-67T>A ENSP00000424363.1:n.209-67T>A
NM_152384.2:c.209-67T>A NP_689597.1:n.209-67T>A
NM_152384.3:c.209-67T>A MANE Select NP_689597.1:n.209-67T>A
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