Canonical Allele Identifier: CA1490417817
Gene: BBS12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742890G= , CM000666.2:g.122742890G= GRCh38
NC_000004.11:g.123664045G= , CM000666.1:g.123664045G= GRCh37
NC_000004.10:g.123883495G= NCBI36
NG_021203.1:g.15189G=

Transcript Alleles

HGVS Amino-acid change
ENST00000314218.8:c.998G= MANE Select ENSP00000319062.3:p.Gly333=
ENST00000314218.7:c.998G= ENSP00000319062.3:p.Gly333=
ENST00000542236.5:c.998G= ENSP00000438273.1:p.Gly333=
NM_001178007.1:c.998G= NP_001171478.1:p.Gly333=
NM_152618.2:c.998G= NP_689831.2:p.Gly333=
XM_011531680.1:c.998G= XP_011529982.1:p.Gly333=
XM_011531680.2:c.998G= XP_011529982.1:p.Gly333=
XM_017007831.1:c.998G= XP_016863320.1:p.Gly333=
NM_152618.3:c.998G= MANE Select NP_689831.2:p.Gly333=
NM_001178007.2:c.998G= NP_001171478.1:p.Gly333=