Canonical Allele Identifier: CA59930238
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs905961878
MyVariant Identifiers: chr2:g.170344253G>C (hg19) chr2:g.169487743G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487743G>C , CM000664.2:g.169487743G>C GRCh38
NC_000002.11:g.170344253G>C , CM000664.1:g.170344253G>C GRCh37
NC_000002.10:g.170052499G>C NCBI36
NG_011567.1:g.13248G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.209-63G>C MANE Select ENSP00000295240.3:n.209-63G>C
ENST00000295240.7:c.209-63G>C ENSP00000295240.3:n.209-63G>C
ENST00000392663.6:c.209-63G>C ENSP00000376431.2:n.209-63G>C
ENST00000443151.1:c.143-244G>C ENSP00000406182.1:n.143-244G>C
ENST00000513963.1:c.209-63G>C ENSP00000424363.1:n.209-63G>C
NM_152384.2:c.209-63G>C NP_689597.1:n.209-63G>C
NM_152384.3:c.209-63G>C MANE Select NP_689597.1:n.209-63G>C
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