Canonical Allele Identifier: CA033458
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs202119986

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459699G>A , CM000675.2:g.48459699G>A GRCh38
NC_000013.10:g.49033835G>A , CM000675.1:g.49033835G>A GRCh37
NC_000013.9:g.47931836G>A NCBI36
NG_009009.1:g.160953G>A , LRG_517:g.160953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1972G>A MANE Select ENSP00000267163.4:p.Ala658Thr
ENST00000643064.1:c.194+78256G>A
ENST00000650461.1:c.1972G>A ENSP00000497193.1:p.Ala658Thr
ENST00000267163.4:c.1972G>A ENSP00000267163.4:p.Ala658Thr
NM_000321.2:c.1972G>A , LRG_517t1:c.1972G>A NP_000312.2:p.Ala658Thr
XM_011535171.1:c.1711G>A XP_011533473.1:p.Ala571Thr
XM_011535171.2:c.1711G>A XP_011533473.1:p.Ala571Thr
NM_000321.3:c.1972G>A MANE Select NP_000312.2:p.Ala658Thr