Canonical Allele Identifier: CA249277923
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs4151510

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48371039G>A , CM000675.2:g.48371039G>A GRCh38
NC_000013.10:g.48945175G>A , CM000675.1:g.48945175G>A GRCh37
NC_000013.9:g.47843176G>A NCBI36
NG_009009.1:g.72293G>A , LRG_517:g.72293G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1128-2366G>A MANE Select ENSP00000267163.4:n.1128-2366G>A
ENST00000650461.1:c.1128-2366G>A ENSP00000497193.1:n.1128-2366G>A
ENST00000267163.4:c.1128-2366G>A ENSP00000267163.4:n.1128-2366G>A
NM_000321.2:c.1128-2366G>A , LRG_517t1:c.1128-2366G>A NP_000312.2:n.1128-2366G>A
XM_011535171.1:c.867-2366G>A XP_011533473.1:n.867-2366G>A
XM_011535171.2:c.867-2366G>A XP_011533473.1:n.867-2366G>A
XR_002957522.1:n.121+3121C>T
NM_000321.3:c.1128-2366G>A MANE Select NP_000312.2:n.1128-2366G>A