Canonical Allele Identifier: CA349161325

Gene: BBS5

Linked Data

• gnomAD v4: 2-169487808-G-T
• MyVariant Identifiers: chr2:g.170344318G>T (hg19) ; chr2:g.169487808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487808G>T , CM000664.2:g.169487808G>T	GRCh38
NC_000002.11:g.170344318G>T , CM000664.1:g.170344318G>T	GRCh37
NC_000002.10:g.170052564G>T	NCBI36
NG_011567.1:g.13313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.211G>T MANE Select	ENSP00000295240.3:p.Val71Phe
ENST00000295240.7:c.211G>T	ENSP00000295240.3:p.Val71Phe
ENST00000392663.6:c.211G>T	ENSP00000376431.2:p.Val71Phe
ENST00000443151.1:c.143-179G>T	ENSP00000406182.1:n.143-179G>T
ENST00000475571.1:n.47G>T
ENST00000513963.1:c.211G>T	ENSP00000424363.1:p.Val71Phe
NM_152384.2:c.211G>T	NP_689597.1:p.Val71Phe
NM_152384.3:c.211G>T MANE Select	NP_689597.1:p.Val71Phe