Canonical Allele Identifier: CA349161507
Gene: BBS5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170344342A>C (hg19) chr2:g.169487832A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487832A>C , CM000664.2:g.169487832A>C GRCh38
NC_000002.11:g.170344342A>C , CM000664.1:g.170344342A>C GRCh37
NC_000002.10:g.170052588A>C NCBI36
NG_011567.1:g.13337A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.235A>C MANE Select ENSP00000295240.3:p.Ile79Leu
ENST00000295240.7:c.235A>C ENSP00000295240.3:p.Ile79Leu
ENST00000392663.6:c.235A>C ENSP00000376431.2:p.Ile79Leu
ENST00000443151.1:c.143-155A>C ENSP00000406182.1:n.143-155A>C
ENST00000475571.1:n.71A>C
ENST00000513963.1:c.235A>C ENSP00000424363.1:p.Ile79Leu
NM_152384.2:c.235A>C NP_689597.1:p.Ile79Leu
NM_152384.3:c.235A>C MANE Select NP_689597.1:p.Ile79Leu
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