Canonical Allele Identifier: CA35910204

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197438309C>T , CM000663.2:g.197438309C>T	GRCh38
NC_000001.10:g.197407439C>T , CM000663.1:g.197407439C>T	GRCh37
NC_000001.9:g.195674062C>T	NCBI36
NG_008483.1:g.175032C>T
NG_008483.2:g.241848C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3750-238C>T MANE Select	NP_957705.1:n.3750-238C>T
ENST00000367400.8:c.3750-238C>T MANE Select	ENSP00000356370.3:n.3750-238C>T
NM_001193640.1:c.3414-238C>T	NP_001180569.1:n.3414-238C>T
NM_001193640.2:c.3414-238C>T	NP_001180569.1:n.3414-238C>T
NM_001257965.1:c.3678-238C>T	NP_001244894.1:n.3678-238C>T
NM_001257965.2:c.3678-238C>T	NP_001244894.1:n.3678-238C>T
NM_001257966.1:c.2142-238C>T	NP_001244895.1:n.2142-238C>T
NM_001257966.2:c.2142-238C>T	NP_001244895.1:n.2142-238C>T
NM_201253.2:c.3750-238C>T	NP_957705.1:n.3750-238C>T
NR_047563.1:n.3751-238C>T
NR_047563.2:n.3703-238C>T
NR_047564.1:n.3959-238C>T
NR_047564.2:n.3911-238C>T
ENST00000367397.1:c.1893-238C>T	ENSP00000356367.1:n.1893-238C>T
ENST00000367399.6:c.3414-238C>T	ENSP00000356369.2:n.3414-238C>T
ENST00000367400.7:c.3750-238C>T	ENSP00000356370.3:n.3750-238C>T
ENST00000484075.5:c.3750-238C>T	ENSP00000433932.1:n.3750-238C>T
ENST00000535699.5:c.3678-238C>T	ENSP00000438786.1:n.3678-238C>T
ENST00000538660.5:c.2142-238C>T	ENSP00000438091.1:n.2142-238C>T
ENST00000638467.1:c.3750-238C>T	ENSP00000491102.1:n.3750-238C>T
ENST00000681519.1:c.2631-238C>T	ENSP00000505267.1:n.2631-238C>T
XM_011509365.1:c.3750-238C>T	XP_011507667.1:n.3750-238C>T
XM_011509365.2:c.3750-238C>T	XP_011507667.1:n.3750-238C>T
XM_011509366.1:c.3750-238C>T	XP_011507668.1:n.3750-238C>T
XM_011509367.1:c.3750-238C>T	XP_011507669.1:n.3750-238C>T
XM_011509368.1:c.3168-238C>T	XP_011507670.1:n.3168-238C>T
XM_011509369.1:c.2193-238C>T	XP_011507671.1:n.2193-238C>T
XM_011509369.2:c.2193-238C>T	XP_011507671.1:n.2193-238C>T
XM_017000851.1:c.2907-238C>T	XP_016856340.1:n.2907-238C>T
XM_017000852.1:c.3885-238C>T	XP_016856341.1:n.3885-238C>T