Canonical Allele Identifier: CA349164682
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169492911-T-A
MyVariant Identifiers: chr2:g.170349421T>A (hg19) chr2:g.169492911T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492911T>A , CM000664.2:g.169492911T>A GRCh38
NC_000002.11:g.170349421T>A , CM000664.1:g.170349421T>A GRCh37
NC_000002.10:g.170057667T>A NCBI36
NG_011567.1:g.18416T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.424T>A MANE Select ENSP00000295240.3:p.Leu142Ile
ENST00000295240.7:c.424T>A ENSP00000295240.3:p.Leu142Ile
ENST00000392663.6:c.424T>A ENSP00000376431.2:p.Leu142Ile
ENST00000443151.1:c.*146T>A ENSP00000406182.1:n.*146T>A
ENST00000475571.1:n.391T>A
ENST00000513963.1:c.424T>A ENSP00000424363.1:p.Leu142Ile
NM_152384.2:c.424T>A NP_689597.1:p.Leu142Ile
NM_152384.3:c.424T>A MANE Select NP_689597.1:p.Leu142Ile
Search 100 bp 5'
Search 100 bp 3'