Canonical Allele Identifier: CA3069255

Gene: BBS12

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742094C>T , CM000666.2:g.122742094C>T	GRCh38
NC_000004.11:g.123663249C>T , CM000666.1:g.123663249C>T	GRCh37
NC_000004.10:g.123882699C>T	NCBI36
NG_021203.1:g.14393C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152618.3:c.202C>T MANE Select	NP_689831.2:p.Gln68Ter
ENST00000314218.8:c.202C>T MANE Select	ENSP00000319062.3:p.Gln68Ter
NM_001178007.1:c.202C>T	NP_001171478.1:p.Gln68Ter
NM_001178007.2:c.202C>T	NP_001171478.1:p.Gln68Ter
NM_152618.2:c.202C>T	NP_689831.2:p.Gln68Ter
ENST00000314218.7:c.202C>T	ENSP00000319062.3:p.Gln68Ter
ENST00000433287.1:c.202C>T	ENSP00000398912.1:p.Gln68Ter
ENST00000542236.5:c.202C>T	ENSP00000438273.1:p.Gln68Ter
XM_011531680.1:c.202C>T	XP_011529982.1:p.Gln68Ter
XM_011531680.2:c.202C>T	XP_011529982.1:p.Gln68Ter
XM_017007831.1:c.202C>T	XP_016863320.1:p.Gln68Ter