Canonical Allele Identifier: CA1218087369

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478072C= , CM000663.2:g.197478072C=	GRCh38
NC_000001.10:g.197447202C= , CM000663.1:g.197447202C=	GRCh37
NC_000001.9:g.195713825C=	NCBI36
NG_008483.1:g.214795C=
NG_008483.2:g.281611C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*193C= MANE Select	ENSP00000356370.3:n.*193C=
ENST00000367400.7:c.*193C=	ENSP00000356370.3:n.*193C=
ENST00000448952.1:c.648C=	ENSP00000395407.1:n.648C=
ENST00000484075.5:c.*525C=	ENSP00000433932.1:n.*525C=
ENST00000535699.5:c.*193C=	ENSP00000438786.1:n.*193C=
ENST00000538660.5:c.*193C=	ENSP00000438091.1:n.*193C=
NM_001193640.1:c.*193C=	NP_001180569.1:n.*193C=
NM_001257965.1:c.*193C=	NP_001244894.1:n.*193C=
NM_001257966.1:c.*193C=	NP_001244895.1:n.*193C=
NM_201253.2:c.*193C=	NP_957705.1:n.*193C=
NR_047563.1:n.4415C=
NR_047564.1:n.4865C=
XM_011509366.1:c.*519C=	XP_011507668.1:n.*519C=
XM_011509367.1:c.*393C=	XP_011507669.1:n.*393C=
XM_011509368.1:c.*193C=	XP_011507670.1:n.*193C=
XM_011509369.1:c.*193C=	XP_011507671.1:n.*193C=
XM_011509369.2:c.*193C=	XP_011507671.1:n.*193C=
XM_017000851.1:c.*193C=	XP_016856340.1:n.*193C=
XM_017000852.1:c.*193C=	XP_016856341.1:n.*193C=
NM_201253.3:c.*193C= MANE Select	NP_957705.1:n.*193C=
NM_001193640.2:c.*193C=	NP_001180569.1:n.*193C=
NM_001257965.2:c.*193C=	NP_001244894.1:n.*193C=
NR_047563.2:n.4367C=
NR_047564.2:n.4817C=
NM_001257966.2:c.*193C=	NP_001244895.1:n.*193C=