Canonical Allele Identifier: CA10628968

Gene: BBS9

Linked Data

• ClinVar Variation Id: 360050
• ClinVar RCV Id: RCV000395536
• dbSNP Id: rs886062279
• gnomAD v3: 7-33129645-T-G
• gnomAD v4: 7-33129645-T-G
• MyVariant Identifiers: chr7:g.33169257T>G (hg19) ; chr7:g.33129645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33129645T>G , CM000669.2:g.33129645T>G	GRCh38
NC_000007.13:g.33169257T>G , CM000669.1:g.33169257T>G	GRCh37
NC_000007.12:g.33135782T>G	NCBI36
NG_009306.1:g.5106T>G
NG_009306.2:g.5402T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242067.11:c.-408T>G MANE Select	ENSP00000242067.6:n.-408T>G
ENST00000671871.1:c.-408T>G	ENSP00000499908.1:n.-408T>G
ENST00000671890.1:c.-420T>G	ENSP00000500146.1:n.-420T>G
ENST00000671963.1:c.-435T>G	ENSP00000499904.1:n.-435T>G
ENST00000672717.1:c.-11-16597T>G	ENSP00000499835.1:n.-11-16597T>G
ENST00000672973.1:c.-408T>G	ENSP00000500017.1:n.-408T>G
ENST00000673230.1:n.43+93T>G
ENST00000673431.1:c.-516T>G	ENSP00000500552.1:n.-516T>G
ENST00000673462.1:c.-12+93T>G	ENSP00000499848.1:n.-12+93T>G
ENST00000242067.10:c.-408T>G	ENSP00000242067.6:n.-408T>G
ENST00000350941.7:c.-408T>G	ENSP00000313122.6:n.-408T>G
ENST00000355070.6:c.-408T>G	ENSP00000347182.2:n.-408T>G
ENST00000396127.6:c.-408T>G	ENSP00000379433.2:n.-408T>G
ENST00000432983.5:c.-12+93T>G	ENSP00000415794.1:n.-12+93T>G
ENST00000433714.5:c.-408T>G	ENSP00000412159.1:n.-408T>G
ENST00000465037.5:n.89T>G
ENST00000482941.1:n.79T>G
NM_001033604.1:c.-408T>G	NP_001028776.1:n.-408T>G
NM_001033605.1:c.-408T>G	NP_001028777.1:n.-408T>G
NM_014451.3:c.-408T>G	NP_055266.2:n.-408T>G
NM_198428.2:c.-408T>G	NP_940820.1:n.-408T>G
XM_005249700.3:c.-408T>G	XP_005249757.1:n.-408T>G
XM_005249701.1:c.-408T>G	XP_005249758.1:n.-408T>G
XM_011515264.1:c.-408T>G	XP_011513566.1:n.-408T>G
XM_011515265.1:c.-12+93T>G	XP_011513567.1:n.-12+93T>G
XM_011515266.1:c.-408T>G	XP_011513568.1:n.-408T>G
XM_011515267.1:c.-408T>G	XP_011513569.1:n.-408T>G
XM_011515268.1:c.-408T>G	XP_011513570.1:n.-408T>G
XM_011515270.1:c.-408T>G	XP_011513572.1:n.-408T>G
NM_001348036.1:c.-12+93T>G	NP_001334965.1:n.-12+93T>G
NM_001348037.2:c.-709T>G	NP_001334966.1:n.-709T>G
NM_001348038.2:c.-685T>G	NP_001334967.1:n.-685T>G
NM_001348039.2:c.-685T>G	NP_001334968.1:n.-685T>G
NM_001348040.2:c.-408T>G	NP_001334969.1:n.-408T>G
NM_001348041.3:c.-408T>G	NP_001334970.1:n.-408T>G
NM_001348042.2:c.-420T>G	NP_001334971.1:n.-420T>G
NM_001348043.2:c.-408T>G	NP_001334972.1:n.-408T>G
NM_001348044.2:c.-435T>G	NP_001334973.1:n.-435T>G
NM_001348045.2:c.-586T>G	NP_001334974.1:n.-586T>G
NM_001348046.2:c.-435T>G	NP_001334975.1:n.-435T>G
NM_001362679.1:c.-408T>G	NP_001349608.1:n.-408T>G
NR_145411.1:n.268+93T>G
NR_145412.1:n.268+93T>G
NR_145413.2:n.106T>G
XM_005249701.3:c.-408T>G	XP_005249758.1:n.-408T>G
XM_011515265.2:c.-12+93T>G	XP_011513567.1:n.-12+93T>G
XM_011515266.3:c.-408T>G	XP_011513568.1:n.-408T>G
XM_011515267.3:c.-408T>G	XP_011513569.1:n.-408T>G
XM_011515269.2:c.-685T>G	XP_011513571.1:n.-685T>G
XM_011515270.3:c.-408T>G	XP_011513572.1:n.-408T>G
XM_017011990.1:c.-12+93T>G	XP_016867479.1:n.-12+93T>G
XM_017011994.2:c.-408T>G	XP_016867483.1:n.-408T>G
XR_001744634.2:n.96T>G
NM_001348040.3:c.-408T>G	NP_001334969.1:n.-408T>G
NM_001348041.4:c.-408T>G	NP_001334970.1:n.-408T>G
NM_001348043.3:c.-408T>G	NP_001334972.1:n.-408T>G
NM_198428.3:c.-408T>G MANE Select	NP_940820.1:n.-408T>G
NM_001033604.2:c.-408T>G	NP_001028776.1:n.-408T>G
NM_001033605.2:c.-408T>G	NP_001028777.1:n.-408T>G
NM_001348037.3:c.-709T>G	NP_001334966.1:n.-709T>G
NM_001348038.3:c.-685T>G	NP_001334967.1:n.-685T>G
NM_001348039.3:c.-685T>G	NP_001334968.1:n.-685T>G
NM_001348042.3:c.-420T>G	NP_001334971.1:n.-420T>G
NM_001348044.3:c.-435T>G	NP_001334973.1:n.-435T>G
NM_001348045.3:c.-586T>G	NP_001334974.1:n.-586T>G
NM_001348046.3:c.-435T>G	NP_001334975.1:n.-435T>G
NM_014451.4:c.-408T>G	NP_055266.2:n.-408T>G
NR_145413.3:n.82T>G