Canonical Allele Identifier: CA2728027147
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138142467
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380109A>T , CM000675.2:g.48380109A>T GRCh38
NC_000013.10:g.48954245A>T , CM000675.1:g.48954245A>T GRCh37
NC_000013.9:g.47852246A>T NCBI36
NG_009009.1:g.81363A>T , LRG_517:g.81363A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1421+25A>T MANE Select ENSP00000267163.4:n.1421+25A>T
ENST00000650461.1:c.1421+25A>T ENSP00000497193.1:n.1421+25A>T
ENST00000267163.4:c.1421+25A>T ENSP00000267163.4:n.1421+25A>T
NM_000321.2:c.1421+25A>T , LRG_517t1:c.1421+25A>T NP_000312.2:n.1421+25A>T
XM_011535171.1:c.1160+25A>T XP_011533473.1:n.1160+25A>T
XM_011535171.2:c.1160+25A>T XP_011533473.1:n.1160+25A>T
NM_000321.3:c.1421+25A>T MANE Select NP_000312.2:n.1421+25A>T
Search 100 bp 5'
Search 100 bp 3'