Canonical Allele Identifier: CA15520673
Gene: BBS9 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17724206

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33384149G>A , CM000669.2:g.33384149G>A GRCh38
NC_000007.13:g.33423761G>A , CM000669.1:g.33423761G>A GRCh37
NC_000007.12:g.33390286G>A NCBI36
NG_009306.1:g.259610G>A
NG_009306.2:g.259906G>A

Transcript Alleles

HGVS Amino-acid change
NM_001033604.1:c.1857+311G>A VV NP_001028776.1:p.=
NM_001033605.1:c.1947+311G>A VV NP_001028777.1:p.=
NM_014451.3:c.1842+311G>A VV NP_055266.2:p.=
NM_198428.2:c.1962+311G>A VV NP_940820.1:p.=
XM_005249700.3:c.1962+311G>A XP_005249757.1:p.=
XM_005249701.1:c.1962+311G>A XP_005249758.1:p.=
XM_011515264.1:c.1962+311G>A XP_011513566.1:p.=
XM_011515265.1:c.1962+311G>A XP_011513567.1:p.=
XM_011515266.1:c.1947+311G>A XP_011513568.1:p.=
XM_011515267.1:c.1857+311G>A XP_011513569.1:p.=
XM_011515268.1:c.1962+311G>A XP_011513570.1:p.=
XM_011515269.1:c.1689+311G>A XP_011513571.1:p.=
XM_011515270.1:c.1962+311G>A XP_011513572.1:p.=
NM_001348036.1:c.1962+311G>A VV NP_001334965.1:p.=
NM_001348037.2:c.1596+311G>A VV NP_001334966.1:p.=
NM_001348038.2:c.1689+311G>A VV NP_001334967.1:p.=
NM_001348039.2:c.1584+311G>A VV NP_001334968.1:p.=
NM_001348040.2:c.1842+311G>A VV NP_001334969.1:p.=
NM_001348041.3:c.1962+311G>A VV NP_001334970.1:p.=
NM_001348042.2:c.1827+311G>A VV NP_001334971.1:p.=
NM_001348043.2:c.1962+311G>A VV NP_001334972.1:p.=
NM_001348044.2:c.1491+311G>A VV NP_001334973.1:p.=
NM_001348045.2:c.1596+311G>A VV NP_001334974.1:p.=
NM_001348046.2:c.1596+311G>A VV NP_001334975.1:p.=
NM_001362679.1:c.1962+311G>A VV NP_001349608.1:p.=
NR_145411.1:n.2241+311G>A
NR_145412.1:n.2433+311G>A
NR_145413.2:n.2619+311G>A
XM_005249701.3:c.1962+311G>A XP_005249758.1:p.=
XM_011515265.2:c.1962+311G>A XP_011513567.1:p.=
XM_011515266.3:c.1947+311G>A XP_011513568.1:p.=
XM_011515267.3:c.1857+311G>A XP_011513569.1:p.=
XM_011515269.2:c.1689+311G>A XP_011513571.1:p.=
XM_011515270.3:c.1962+311G>A XP_011513572.1:p.=
XM_017011990.1:c.1947+311G>A XP_016867479.1:p.=
ENST00000242067.10:c.1962+311G>A ENSP00000242067.6:p.=
ENST00000350941.7:c.1842+311G>A ENSP00000313122.6:p.=
ENST00000355070.6:c.1947+311G>A ENSP00000347182.2:p.=
ENST00000396127.6:c.1857+311G>A ENSP00000379433.2:p.=
ENST00000433714.5:c.*723+311G>A ENSP00000412159.1:p.=
ENST00000434373.3:n.661+311G>A
ENST00000496029.1:n.85+311G>A
ENST00000627264.1:n.533+311G>A