Canonical Allele Identifier: CA1218087317
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197477938C= , CM000663.2:g.197477938C= GRCh38
NC_000001.10:g.197447068C= , CM000663.1:g.197447068C= GRCh37
NC_000001.9:g.195713691C= NCBI36
NG_008483.1:g.214661C=
NG_008483.2:g.281477C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.*59C= MANE Select ENSP00000356370.3:n.*59C=
ENST00000367400.7:c.*59C= ENSP00000356370.3:n.*59C=
ENST00000448952.1:c.514C= ENSP00000395407.1:n.514C=
ENST00000484075.5:c.*391C= ENSP00000433932.1:n.*391C=
ENST00000535699.5:c.*59C= ENSP00000438786.1:n.*59C=
ENST00000538660.5:c.*59C= ENSP00000438091.1:n.*59C=
NM_001193640.1:c.*59C= NP_001180569.1:n.*59C=
NM_001257965.1:c.*59C= NP_001244894.1:n.*59C=
NM_001257966.1:c.*59C= NP_001244895.1:n.*59C=
NM_201253.2:c.*59C= NP_957705.1:n.*59C=
NR_047563.1:n.4281C=
NR_047564.1:n.4731C=
XM_011509366.1:c.*385C= XP_011507668.1:n.*385C=
XM_011509367.1:c.*259C= XP_011507669.1:n.*259C=
XM_011509368.1:c.*59C= XP_011507670.1:n.*59C=
XM_011509369.1:c.*59C= XP_011507671.1:n.*59C=
XM_011509369.2:c.*59C= XP_011507671.1:n.*59C=
XM_017000851.1:c.*59C= XP_016856340.1:n.*59C=
XM_017000852.1:c.*59C= XP_016856341.1:n.*59C=
NM_201253.3:c.*59C= MANE Select NP_957705.1:n.*59C=
NM_001193640.2:c.*59C= NP_001180569.1:n.*59C=
NM_001257965.2:c.*59C= NP_001244894.1:n.*59C=
NR_047563.2:n.4233C=
NR_047564.2:n.4683C=
NM_001257966.2:c.*59C= NP_001244895.1:n.*59C=