Canonical Allele Identifier: CA4214700
Community Standard Title: NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)
Gene: BBS9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33534143G>A , CM000669.2:g.33534143G>A GRCh38
NC_000007.13:g.33573755G>A , CM000669.1:g.33573755G>A GRCh37
NC_000007.12:g.33540280G>A NCBI36
NG_009306.1:g.409604G>A
NG_009306.2:g.409900G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198428.3:c.2488G>A MANE Select NP_940820.1:p.Asp830Asn
ENST00000242067.11:c.2488G>A MANE Select ENSP00000242067.6:p.Asp830Asn
NM_001033604.1:c.2383G>A NP_001028776.1:p.Asp795Asn
NM_001033604.2:c.2383G>A NP_001028776.1:p.Asp795Asn
NM_001033605.1:c.2473G>A NP_001028777.1:p.Asp825Asn
NM_001033605.2:c.2473G>A NP_001028777.1:p.Asp825Asn
NM_001348036.1:c.2488G>A NP_001334965.1:p.Asp830Asn
NM_001348037.2:c.1939G>A NP_001334966.1:p.Asp647Asn
NM_001348037.3:c.1939G>A NP_001334966.1:p.Asp647Asn
NM_001348038.2:c.2215G>A NP_001334967.1:p.Asp739Asn
NM_001348038.3:c.2215G>A NP_001334967.1:p.Asp739Asn
NM_001348039.2:c.2110G>A NP_001334968.1:p.Asp704Asn
NM_001348039.3:c.2110G>A NP_001334968.1:p.Asp704Asn
NM_001348040.2:c.2368G>A NP_001334969.1:p.Asp790Asn
NM_001348040.3:c.2368G>A NP_001334969.1:p.Asp790Asn
NM_001348041.3:c.2488G>A NP_001334970.1:p.Asp830Asn
NM_001348041.4:c.2488G>A NP_001334970.1:p.Asp830Asn
NM_001348042.2:c.2353G>A NP_001334971.1:p.Asp785Asn
NM_001348042.3:c.2353G>A NP_001334971.1:p.Asp785Asn
NM_001348043.2:c.2488G>A NP_001334972.1:p.Asp830Asn
NM_001348043.3:c.2488G>A NP_001334972.1:p.Asp830Asn
NM_001348044.2:c.2017G>A NP_001334973.1:p.Asp673Asn
NM_001348044.3:c.2017G>A NP_001334973.1:p.Asp673Asn
NM_001348045.2:c.2122G>A NP_001334974.1:p.Asp708Asn
NM_001348045.3:c.2122G>A NP_001334974.1:p.Asp708Asn
NM_001348046.2:c.2122G>A NP_001334975.1:p.Asp708Asn
NM_001348046.3:c.2122G>A NP_001334975.1:p.Asp708Asn
NM_001362679.1:c.2488G>A NP_001349608.1:p.Asp830Asn
NM_014451.3:c.2368G>A NP_055266.2:p.Asp790Asn
NM_014451.4:c.2368G>A NP_055266.2:p.Asp790Asn
NM_198428.2:c.2488G>A NP_940820.1:p.Asp830Asn
NR_145411.1:n.2767G>A
NR_145412.1:n.2959G>A
NR_145413.2:n.3145G>A
NR_145413.3:n.3121G>A
ENST00000242067.10:c.2488G>A ENSP00000242067.6:p.Asp830Asn
ENST00000350941.7:c.2368G>A ENSP00000313122.6:p.Asp790Asn
ENST00000355070.6:c.2473G>A ENSP00000347182.2:p.Asp825Asn
ENST00000396127.6:c.2383G>A ENSP00000379433.2:p.Asp795Asn
ENST00000433714.5:c.*1249G>A ENSP00000412159.1:n.*1249G>A
ENST00000434373.3:c.1187G>A
ENST00000489708.1:n.338G>A
ENST00000495426.1:n.254G>A
ENST00000498189.1:n.457G>A
ENST00000671871.1:c.2611G>A ENSP00000499908.1:p.Asp871Asn
ENST00000671890.1:c.2353G>A ENSP00000500146.1:p.Asp785Asn
ENST00000671952.1:c.2488G>A ENSP00000500239.1:p.Asp830Asn
ENST00000671963.1:c.2122G>A ENSP00000499904.1:p.Asp708Asn
ENST00000672453.1:n.2257G>A
ENST00000672717.1:c.2383G>A ENSP00000499835.1:p.Asp795Asn
ENST00000672973.1:c.2488G>A ENSP00000500017.1:p.Asp830Asn
ENST00000673056.1:c.2488G>A ENSP00000499989.1:p.Asp830Asn
ENST00000673219.1:c.*2225G>A ENSP00000499968.1:n.*2225G>A
ENST00000673230.1:n.2519G>A
ENST00000673431.1:c.2353G>A ENSP00000500552.1:p.Asp785Asn
ENST00000673462.1:c.*1234G>A ENSP00000499848.1:n.*1234G>A
XM_005249700.3:c.2488G>A XP_005249757.1:p.Asp830Asn
XM_011515264.1:c.2488G>A XP_011513566.1:p.Asp830Asn
XM_011515265.1:c.2488G>A XP_011513567.1:p.Asp830Asn
XM_011515265.2:c.2488G>A XP_011513567.1:p.Asp830Asn
XM_011515266.1:c.2473G>A XP_011513568.1:p.Asp825Asn
XM_011515266.3:c.2473G>A XP_011513568.1:p.Asp825Asn
XM_011515267.1:c.2383G>A XP_011513569.1:p.Asp795Asn
XM_011515267.3:c.2383G>A XP_011513569.1:p.Asp795Asn
XM_011515268.1:c.2488G>A XP_011513570.1:p.Asp830Asn
XM_011515269.1:c.2215G>A XP_011513571.1:p.Asp739Asn
XM_011515269.2:c.2215G>A XP_011513571.1:p.Asp739Asn
XM_017011990.1:c.2473G>A XP_016867479.1:p.Asp825Asn