Canonical Allele Identifier: CA2649673012

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477983-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477983T>C , CM000663.2:g.197477983T>C	GRCh38
NC_000001.10:g.197447113T>C , CM000663.1:g.197447113T>C	GRCh37
NC_000001.9:g.195713736T>C	NCBI36
NG_008483.1:g.214706T>C
NG_008483.2:g.281522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*104T>C MANE Select	ENSP00000356370.3:n.*104T>C
ENST00000367400.7:c.*104T>C	ENSP00000356370.3:n.*104T>C
ENST00000448952.1:c.559T>C	ENSP00000395407.1:n.559T>C
ENST00000484075.5:c.*436T>C	ENSP00000433932.1:n.*436T>C
ENST00000535699.5:c.*104T>C	ENSP00000438786.1:n.*104T>C
ENST00000538660.5:c.*104T>C	ENSP00000438091.1:n.*104T>C
NM_001193640.1:c.*104T>C	NP_001180569.1:n.*104T>C
NM_001257965.1:c.*104T>C	NP_001244894.1:n.*104T>C
NM_001257966.1:c.*104T>C	NP_001244895.1:n.*104T>C
NM_201253.2:c.*104T>C	NP_957705.1:n.*104T>C
NR_047563.1:n.4326T>C
NR_047564.1:n.4776T>C
XM_011509366.1:c.*430T>C	XP_011507668.1:n.*430T>C
XM_011509367.1:c.*304T>C	XP_011507669.1:n.*304T>C
XM_011509368.1:c.*104T>C	XP_011507670.1:n.*104T>C
XM_011509369.1:c.*104T>C	XP_011507671.1:n.*104T>C
XM_011509369.2:c.*104T>C	XP_011507671.1:n.*104T>C
XM_017000851.1:c.*104T>C	XP_016856340.1:n.*104T>C
XM_017000852.1:c.*104T>C	XP_016856341.1:n.*104T>C
NM_201253.3:c.*104T>C MANE Select	NP_957705.1:n.*104T>C
NM_001193640.2:c.*104T>C	NP_001180569.1:n.*104T>C
NM_001257965.2:c.*104T>C	NP_001244894.1:n.*104T>C
NR_047563.2:n.4278T>C
NR_047564.2:n.4728T>C
NM_001257966.2:c.*104T>C	NP_001244895.1:n.*104T>C