Canonical Allele Identifier: CA358224154
Gene: BBS12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742881T>G , CM000666.2:g.122742881T>G GRCh38
NC_000004.11:g.123664036T>G , CM000666.1:g.123664036T>G GRCh37
NC_000004.10:g.123883486T>G NCBI36
NG_021203.1:g.15180T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000314218.8:c.989T>G MANE Select ENSP00000319062.3:p.Val330Gly
ENST00000314218.7:c.989T>G ENSP00000319062.3:p.Val330Gly
ENST00000542236.5:c.989T>G ENSP00000438273.1:p.Val330Gly
NM_001178007.1:c.989T>G NP_001171478.1:p.Val330Gly
NM_152618.2:c.989T>G NP_689831.2:p.Val330Gly
XM_011531680.1:c.989T>G XP_011529982.1:p.Val330Gly
XM_011531680.2:c.989T>G XP_011529982.1:p.Val330Gly
XM_017007831.1:c.989T>G XP_016863320.1:p.Val330Gly
NM_152618.3:c.989T>G MANE Select NP_689831.2:p.Val330Gly
NM_001178007.2:c.989T>G NP_001171478.1:p.Val330Gly