Canonical Allele Identifier: CA349164670
Gene: BBS5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170349416T>C (hg19) chr2:g.169492906T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492906T>C , CM000664.2:g.169492906T>C GRCh38
NC_000002.11:g.170349416T>C , CM000664.1:g.170349416T>C GRCh37
NC_000002.10:g.170057662T>C NCBI36
NG_011567.1:g.18411T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.419T>C MANE Select ENSP00000295240.3:p.Phe140Ser
ENST00000295240.7:c.419T>C ENSP00000295240.3:p.Phe140Ser
ENST00000392663.6:c.419T>C ENSP00000376431.2:p.Phe140Ser
ENST00000443151.1:c.*141T>C ENSP00000406182.1:n.*141T>C
ENST00000475571.1:n.386T>C
ENST00000513963.1:c.419T>C ENSP00000424363.1:p.Phe140Ser
NM_152384.2:c.419T>C NP_689597.1:p.Phe140Ser
NM_152384.3:c.419T>C MANE Select NP_689597.1:p.Phe140Ser
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