Canonical Allele Identifier: CA1145144645
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427861G= , CM000663.2:g.197427861G= GRCh38
NC_000001.10:g.197396991G= , CM000663.1:g.197396991G= GRCh37
NC_000001.9:g.195663614G= NCBI36
NG_008483.1:g.164584G=
NG_008483.2:g.231400G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2536G= MANE Select ENSP00000356370.3:p.Gly846=
ENST00000638467.1:c.2536G= ENSP00000491102.1:p.Gly846=
ENST00000681519.1:c.1417G= ENSP00000505267.1:p.Gly473=
ENST00000367397.1:c.679G= ENSP00000356367.1:p.Gly227=
ENST00000367399.6:c.2200G= ENSP00000356369.2:p.Gly734=
ENST00000367400.7:c.2536G= ENSP00000356370.3:p.Gly846=
ENST00000484075.5:c.2536G= ENSP00000433932.1:p.Gly846=
ENST00000535699.5:c.2329G= ENSP00000438786.1:p.Gly777=
ENST00000538660.5:c.2128+5905G= ENSP00000438091.1:n.2128+5905G=
NM_001193640.1:c.2200G= NP_001180569.1:p.Gly734=
NM_001257965.1:c.2329G= NP_001244894.1:p.Gly777=
NM_001257966.1:c.2128+5905G= NP_001244895.1:n.2128+5905G=
NM_201253.2:c.2536G= NP_957705.1:p.Gly846=
NR_047563.1:n.2537G=
NR_047564.1:n.2745G=
XM_011509365.1:c.2536G= XP_011507667.1:p.Gly846=
XM_011509366.1:c.2536G= XP_011507668.1:p.Gly846=
XM_011509367.1:c.2536G= XP_011507669.1:p.Gly846=
XM_011509368.1:c.1954G= XP_011507670.1:p.Gly652=
XM_011509369.1:c.979G= XP_011507671.1:p.Gly327=
XM_011509365.2:c.2536G= XP_011507667.1:p.Gly846=
XM_011509369.2:c.979G= XP_011507671.1:p.Gly327=
XM_017000851.1:c.1693G= XP_016856340.1:p.Gly565=
XM_017000852.1:c.2536G= XP_016856341.1:p.Gly846=
NM_201253.3:c.2536G= MANE Select NP_957705.1:p.Gly846=
NM_001193640.2:c.2200G= NP_001180569.1:p.Gly734=
NM_001257965.2:c.2329G= NP_001244894.1:p.Gly777=
NR_047563.2:n.2489G=
NR_047564.2:n.2697G=
NM_001257966.2:c.2128+5905G= NP_001244895.1:n.2128+5905G=