Canonical Allele Identifier: CA2728043305
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138116143

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364866G>C , CM000675.2:g.48364866G>C GRCh38
NC_000013.10:g.48939002G>C , CM000675.1:g.48939002G>C GRCh37
NC_000013.9:g.47837003G>C NCBI36
NG_009009.1:g.66120G>C , LRG_517:g.66120G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-28G>C MANE Select ENSP00000267163.4:n.862-28G>C
ENST00000650461.1:c.862-28G>C ENSP00000497193.1:n.862-28G>C
ENST00000267163.4:c.862-28G>C ENSP00000267163.4:n.862-28G>C
NM_000321.2:c.862-28G>C , LRG_517t1:c.862-28G>C NP_000312.2:n.862-28G>C
XM_011535171.1:c.601-28G>C XP_011533473.1:n.601-28G>C
XM_011535171.2:c.601-28G>C XP_011533473.1:n.601-28G>C
NM_000321.3:c.862-28G>C MANE Select NP_000312.2:n.862-28G>C