Canonical Allele Identifier: CA2573974905

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477976-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477976C>A , CM000663.2:g.197477976C>A	GRCh38
NC_000001.10:g.197447106C>A , CM000663.1:g.197447106C>A	GRCh37
NC_000001.9:g.195713729C>A	NCBI36
NG_008483.1:g.214699C>A
NG_008483.2:g.281515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*97C>A MANE Select	ENSP00000356370.3:n.*97C>A
ENST00000367400.7:c.*97C>A	ENSP00000356370.3:n.*97C>A
ENST00000448952.1:c.552C>A	ENSP00000395407.1:n.552C>A
ENST00000484075.5:c.*429C>A	ENSP00000433932.1:n.*429C>A
ENST00000535699.5:c.*97C>A	ENSP00000438786.1:n.*97C>A
ENST00000538660.5:c.*97C>A	ENSP00000438091.1:n.*97C>A
NM_001193640.1:c.*97C>A	NP_001180569.1:n.*97C>A
NM_001257965.1:c.*97C>A	NP_001244894.1:n.*97C>A
NM_001257966.1:c.*97C>A	NP_001244895.1:n.*97C>A
NM_201253.2:c.*97C>A	NP_957705.1:n.*97C>A
NR_047563.1:n.4319C>A
NR_047564.1:n.4769C>A
XM_011509366.1:c.*423C>A	XP_011507668.1:n.*423C>A
XM_011509367.1:c.*297C>A	XP_011507669.1:n.*297C>A
XM_011509368.1:c.*97C>A	XP_011507670.1:n.*97C>A
XM_011509369.1:c.*97C>A	XP_011507671.1:n.*97C>A
XM_011509369.2:c.*97C>A	XP_011507671.1:n.*97C>A
XM_017000851.1:c.*97C>A	XP_016856340.1:n.*97C>A
XM_017000852.1:c.*97C>A	XP_016856341.1:n.*97C>A
NM_201253.3:c.*97C>A MANE Select	NP_957705.1:n.*97C>A
NM_001193640.2:c.*97C>A	NP_001180569.1:n.*97C>A
NM_001257965.2:c.*97C>A	NP_001244894.1:n.*97C>A
NR_047563.2:n.4271C>A
NR_047564.2:n.4721C>A
NM_001257966.2:c.*97C>A	NP_001244895.1:n.*97C>A