Canonical Allele Identifier: CA12584985

Gene: BBS9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33351527T>A , CM000669.2:g.33351527T>A	GRCh38
NC_000007.13:g.33391139T>A , CM000669.1:g.33391139T>A	GRCh37
NC_000007.12:g.33357664T>A	NCBI36
NG_009306.1:g.226988T>A
NG_009306.2:g.227284T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198428.3:c.1537+204T>A MANE Select	NP_940820.1:n.1537+204T>A
ENST00000242067.11:c.1537+204T>A MANE Select	ENSP00000242067.6:n.1537+204T>A
NM_001033604.1:c.1433-1332T>A	NP_001028776.1:n.1433-1332T>A
NM_001033604.2:c.1433-1332T>A	NP_001028776.1:n.1433-1332T>A
NM_001033605.1:c.1537+204T>A	NP_001028777.1:n.1537+204T>A
NM_001033605.2:c.1537+204T>A	NP_001028777.1:n.1537+204T>A
NM_001348036.1:c.1537+204T>A	NP_001334965.1:n.1537+204T>A
NM_001348037.2:c.1171+204T>A	NP_001334966.1:n.1171+204T>A
NM_001348037.3:c.1171+204T>A	NP_001334966.1:n.1171+204T>A
NM_001348038.2:c.1264+204T>A	NP_001334967.1:n.1264+204T>A
NM_001348038.3:c.1264+204T>A	NP_001334967.1:n.1264+204T>A
NM_001348039.2:c.1160-1332T>A	NP_001334968.1:n.1160-1332T>A
NM_001348039.3:c.1160-1332T>A	NP_001334968.1:n.1160-1332T>A
NM_001348040.2:c.1432+2357T>A	NP_001334969.1:n.1432+2357T>A
NM_001348040.3:c.1432+2357T>A	NP_001334969.1:n.1432+2357T>A
NM_001348041.3:c.1537+204T>A	NP_001334970.1:n.1537+204T>A
NM_001348041.4:c.1537+204T>A	NP_001334970.1:n.1537+204T>A
NM_001348042.2:c.1402+204T>A	NP_001334971.1:n.1402+204T>A
NM_001348042.3:c.1402+204T>A	NP_001334971.1:n.1402+204T>A
NM_001348043.2:c.1537+204T>A	NP_001334972.1:n.1537+204T>A
NM_001348043.3:c.1537+204T>A	NP_001334972.1:n.1537+204T>A
NM_001348044.2:c.1067-1332T>A	NP_001334973.1:n.1067-1332T>A
NM_001348044.3:c.1067-1332T>A	NP_001334973.1:n.1067-1332T>A
NM_001348045.2:c.1171+204T>A	NP_001334974.1:n.1171+204T>A
NM_001348045.3:c.1171+204T>A	NP_001334974.1:n.1171+204T>A
NM_001348046.2:c.1171+204T>A	NP_001334975.1:n.1171+204T>A
NM_001348046.3:c.1171+204T>A	NP_001334975.1:n.1171+204T>A
NM_001362679.1:c.1537+204T>A	NP_001349608.1:n.1537+204T>A
NM_014451.3:c.1432+2357T>A	NP_055266.2:n.1432+2357T>A
NM_014451.4:c.1432+2357T>A	NP_055266.2:n.1432+2357T>A
NM_198428.2:c.1537+204T>A	NP_940820.1:n.1537+204T>A
NR_145411.1:n.1816+204T>A
NR_145412.1:n.2008+204T>A
NR_145413.2:n.2194+204T>A
NR_145413.3:n.2170+204T>A
ENST00000242067.10:c.1537+204T>A	ENSP00000242067.6:n.1537+204T>A
ENST00000350941.7:c.1432+2357T>A	ENSP00000313122.6:n.1432+2357T>A
ENST00000355070.6:c.1537+204T>A	ENSP00000347182.2:n.1537+204T>A
ENST00000396127.6:c.1433-1332T>A	ENSP00000379433.2:n.1433-1332T>A
ENST00000433714.5:c.*298+204T>A	ENSP00000412159.1:n.*298+204T>A
ENST00000434373.3:c.236+204T>A
ENST00000671871.1:c.1660+204T>A	ENSP00000499908.1:n.1660+204T>A
ENST00000671890.1:c.1402+204T>A	ENSP00000500146.1:n.1402+204T>A
ENST00000671952.1:c.1537+204T>A	ENSP00000500239.1:n.1537+204T>A
ENST00000671963.1:c.1171+204T>A	ENSP00000499904.1:n.1171+204T>A
ENST00000672453.1:n.1306+204T>A
ENST00000672717.1:c.1433-1332T>A	ENSP00000499835.1:n.1433-1332T>A
ENST00000672973.1:c.1537+204T>A	ENSP00000500017.1:n.1537+204T>A
ENST00000673056.1:c.1537+204T>A	ENSP00000499989.1:n.1537+204T>A
ENST00000673219.1:c.*1274+204T>A	ENSP00000499968.1:n.*1274+204T>A
ENST00000673230.1:n.1568+204T>A
ENST00000673431.1:c.1402+204T>A	ENSP00000500552.1:n.1402+204T>A
ENST00000673462.1:c.*283+204T>A	ENSP00000499848.1:n.*283+204T>A
XM_005249700.3:c.1537+204T>A	XP_005249757.1:n.1537+204T>A
XM_005249701.1:c.1537+204T>A	XP_005249758.1:n.1537+204T>A
XM_005249701.3:c.1537+204T>A	XP_005249758.1:n.1537+204T>A
XM_011515264.1:c.1537+204T>A	XP_011513566.1:n.1537+204T>A
XM_011515265.1:c.1537+204T>A	XP_011513567.1:n.1537+204T>A
XM_011515265.2:c.1537+204T>A	XP_011513567.1:n.1537+204T>A
XM_011515266.1:c.1537+204T>A	XP_011513568.1:n.1537+204T>A
XM_011515266.3:c.1537+204T>A	XP_011513568.1:n.1537+204T>A
XM_011515267.1:c.1433-1332T>A	XP_011513569.1:n.1433-1332T>A
XM_011515267.3:c.1433-1332T>A	XP_011513569.1:n.1433-1332T>A
XM_011515268.1:c.1537+204T>A	XP_011513570.1:n.1537+204T>A
XM_011515269.1:c.1264+204T>A	XP_011513571.1:n.1264+204T>A
XM_011515269.2:c.1264+204T>A	XP_011513571.1:n.1264+204T>A
XM_011515270.1:c.1537+204T>A	XP_011513572.1:n.1537+204T>A
XM_011515270.3:c.1537+204T>A	XP_011513572.1:n.1537+204T>A
XM_017011990.1:c.1537+204T>A	XP_016867479.1:n.1537+204T>A
XM_017011994.2:c.1537+204T>A	XP_016867483.1:n.1537+204T>A