Canonical Allele Identifier: CA36049977
Gene: CRB1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197356778T>A , CM000663.2:g.197356778T>A GRCh38
NC_000001.10:g.197325908T>A , CM000663.1:g.197325908T>A GRCh37
NC_000001.9:g.195592531T>A NCBI36
NG_008483.1:g.93501T>A
NG_008483.2:g.160317T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.989-53T>A MANE Select ENSP00000356370.3:n.989-53T>A
ENST00000638467.1:c.989-53T>A ENSP00000491102.1:n.989-53T>A
ENST00000367399.6:c.653-53T>A ENSP00000356369.2:n.653-53T>A
ENST00000367400.7:c.989-53T>A ENSP00000356370.3:n.989-53T>A
ENST00000475659.1:n.1126-53T>A
ENST00000484075.5:c.989-53T>A ENSP00000433932.1:n.989-53T>A
ENST00000535699.5:c.782-53T>A ENSP00000438786.1:n.782-53T>A
ENST00000538660.5:c.989-53T>A ENSP00000438091.1:n.989-53T>A
NM_001193640.1:c.653-53T>A NP_001180569.1:n.653-53T>A
NM_001257965.1:c.782-53T>A NP_001244894.1:n.782-53T>A
NM_001257966.1:c.989-53T>A NP_001244895.1:n.989-53T>A
NM_201253.2:c.989-53T>A NP_957705.1:n.989-53T>A
NR_047563.1:n.1198-53T>A
NR_047564.1:n.1198-53T>A
XM_011509365.1:c.989-53T>A XP_011507667.1:n.989-53T>A
XM_011509366.1:c.989-53T>A XP_011507668.1:n.989-53T>A
XM_011509367.1:c.989-53T>A XP_011507669.1:n.989-53T>A
XM_011509368.1:c.407-53T>A XP_011507670.1:n.407-53T>A
XM_011509365.2:c.989-53T>A XP_011507667.1:n.989-53T>A
XM_017000851.1:c.146-53T>A XP_016856340.1:n.146-53T>A
XM_017000852.1:c.989-53T>A XP_016856341.1:n.989-53T>A
NM_201253.3:c.989-53T>A MANE Select NP_957705.1:n.989-53T>A
NM_001193640.2:c.653-53T>A NP_001180569.1:n.653-53T>A
NM_001257965.2:c.782-53T>A NP_001244894.1:n.782-53T>A
NR_047563.2:n.1150-53T>A
NR_047564.2:n.1150-53T>A
NM_001257966.2:c.989-53T>A NP_001244895.1:n.989-53T>A