Canonical Allele Identifier: CA1490417844

Gene: BBS12

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742940C= , CM000666.2:g.122742940C=	GRCh38
NC_000004.11:g.123664095C= , CM000666.1:g.123664095C=	GRCh37
NC_000004.10:g.123883545C=	NCBI36
NG_021203.1:g.15239C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1048C= MANE Select	ENSP00000319062.3:p.Gln350=
ENST00000314218.7:c.1048C=	ENSP00000319062.3:p.Gln350=
ENST00000542236.5:c.1048C=	ENSP00000438273.1:p.Gln350=
NM_001178007.1:c.1048C=	NP_001171478.1:p.Gln350=
NM_152618.2:c.1048C=	NP_689831.2:p.Gln350=
XM_011531680.1:c.1048C=	XP_011529982.1:p.Gln350=
XM_011531680.2:c.1048C=	XP_011529982.1:p.Gln350=
XM_017007831.1:c.1048C=	XP_016863320.1:p.Gln350=
NM_152618.3:c.1048C= MANE Select	NP_689831.2:p.Gln350=
NM_001178007.2:c.1048C=	NP_001171478.1:p.Gln350=