Canonical Allele Identifier: CA358066274
Gene: BBS7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121854818C>A , CM000666.2:g.121854818C>A GRCh38
NC_000004.11:g.122775973C>A , CM000666.1:g.122775973C>A GRCh37
NC_000004.10:g.122995423C>A NCBI36
NG_009111.1:g.20670G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.604G>T MANE Select ENSP00000264499.4:p.Asp202Tyr
ENST00000264499.8:c.604G>T ENSP00000264499.4:p.Asp202Tyr
ENST00000506636.1:c.604G>T ENSP00000423626.1:p.Asp202Tyr
NM_018190.3:c.604G>T NP_060660.2:p.Asp202Tyr
NM_176824.2:c.604G>T NP_789794.1:p.Asp202Tyr
XM_005263106.2:c.607G>T XP_005263163.1:p.Asp203Tyr
XM_011532079.1:c.652G>T XP_011530381.1:p.Asp218Tyr
XM_011532080.1:c.649G>T XP_011530382.1:p.Asp217Tyr
XM_011532081.1:c.652G>T XP_011530383.1:p.Asp218Tyr
XM_005263106.4:c.607G>T XP_005263163.1:p.Asp203Tyr
XM_011532079.3:c.652G>T XP_011530381.1:p.Asp218Tyr
XM_011532080.3:c.649G>T XP_011530382.1:p.Asp217Tyr
XM_011532081.3:c.652G>T XP_011530383.1:p.Asp218Tyr
XM_017008357.2:c.604G>T XP_016863846.1:p.Asp202Tyr
XM_017008358.2:c.607G>T XP_016863847.1:p.Asp203Tyr
NM_176824.3:c.604G>T MANE Select NP_789794.1:p.Asp202Tyr
NM_018190.4:c.604G>T NP_060660.2:p.Asp202Tyr