Canonical Allele Identifier: CA2622978366
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342520A>T , CM000675.2:g.48342520A>T GRCh38
NC_000013.10:g.48916656A>T , CM000675.1:g.48916656A>T GRCh37
NC_000013.9:g.47814657A>T NCBI36
NG_009009.1:g.43774A>T , LRG_517:g.43774A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.265-79A>T MANE Select ENSP00000267163.4:n.265-79A>T
ENST00000650461.1:c.265-79A>T ENSP00000497193.1:n.265-79A>T
ENST00000267163.4:c.265-79A>T ENSP00000267163.4:n.265-79A>T
ENST00000467505.5:c.138-17497A>T ENSP00000434702.1:n.138-17497A>T
ENST00000525036.1:n.427-79A>T
NM_000321.2:c.265-79A>T , LRG_517t1:c.265-79A>T NP_000312.2:n.265-79A>T
XM_011535171.1:c.4-79A>T XP_011533473.1:n.4-79A>T
XM_011535171.2:c.4-79A>T XP_011533473.1:n.4-79A>T
NM_000321.3:c.265-79A>T MANE Select NP_000312.2:n.265-79A>T