Canonical Allele Identifier: CA429922287
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs1683511921
COSMIC: COSM1482174
MyVariant Identifiers: chr2:g.170344338G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487828G>A , CM000664.2:g.169487828G>A GRCh38
NC_000002.11:g.170344338G>A , CM000664.1:g.170344338G>A GRCh37
NC_000002.10:g.170052584G>A NCBI36
NG_011567.1:g.13333G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.231G>A MANE Select ENSP00000295240.3:p.Leu77=
ENST00000295240.7:c.231G>A ENSP00000295240.3:p.Leu77=
ENST00000392663.6:c.231G>A ENSP00000376431.2:p.Leu77=
ENST00000443151.1:c.143-159G>A ENSP00000406182.1:n.143-159G>A
ENST00000475571.1:n.67G>A
ENST00000513963.1:c.231G>A ENSP00000424363.1:p.Leu77=
NM_152384.2:c.231G>A NP_689597.1:p.Leu77=
NM_152384.3:c.231G>A MANE Select NP_689597.1:p.Leu77=
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