Canonical Allele Identifier: CA349161471
Gene: BBS5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170344337T>A (hg19) chr2:g.169487827T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487827T>A , CM000664.2:g.169487827T>A GRCh38
NC_000002.11:g.170344337T>A , CM000664.1:g.170344337T>A GRCh37
NC_000002.10:g.170052583T>A NCBI36
NG_011567.1:g.13332T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.230T>A MANE Select ENSP00000295240.3:p.Leu77Ter
ENST00000295240.7:c.230T>A ENSP00000295240.3:p.Leu77Ter
ENST00000392663.6:c.230T>A ENSP00000376431.2:p.Leu77Ter
ENST00000443151.1:c.143-160T>A ENSP00000406182.1:n.143-160T>A
ENST00000475571.1:n.66T>A
ENST00000513963.1:c.230T>A ENSP00000424363.1:p.Leu77Ter
NM_152384.2:c.230T>A NP_689597.1:p.Leu77Ter
NM_152384.3:c.230T>A MANE Select NP_689597.1:p.Leu77Ter
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