Canonical Allele Identifier: CA358224382
Gene: BBS12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742986A>T , CM000666.2:g.122742986A>T GRCh38
NC_000004.11:g.123664141A>T , CM000666.1:g.123664141A>T GRCh37
NC_000004.10:g.123883591A>T NCBI36
NG_021203.1:g.15285A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.1094A>T MANE Select ENSP00000319062.3:p.Glu365Val
ENST00000314218.7:c.1094A>T ENSP00000319062.3:p.Glu365Val
ENST00000542236.5:c.1094A>T ENSP00000438273.1:p.Glu365Val
NM_001178007.1:c.1094A>T NP_001171478.1:p.Glu365Val
NM_152618.2:c.1094A>T NP_689831.2:p.Glu365Val
XM_011531680.1:c.1094A>T XP_011529982.1:p.Glu365Val
XM_011531680.2:c.1094A>T XP_011529982.1:p.Glu365Val
XM_017007831.1:c.1094A>T XP_016863320.1:p.Glu365Val
NM_152618.3:c.1094A>T MANE Select NP_689831.2:p.Glu365Val
NM_001178007.2:c.1094A>T NP_001171478.1:p.Glu365Val