Canonical Allele Identifier: CA388156871
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48923090A>C (hg19) chr13:g.48348954A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348954A>C , CM000675.2:g.48348954A>C GRCh38
NC_000013.10:g.48923090A>C , CM000675.1:g.48923090A>C GRCh37
NC_000013.9:g.47821091A>C NCBI36
NG_009009.1:g.50208A>C , LRG_517:g.50208A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-2A>C MANE Select ENSP00000267163.4:n.540-2A>C
ENST00000650461.1:c.540-2A>C ENSP00000497193.1:n.540-2A>C
ENST00000267163.4:c.540-2A>C ENSP00000267163.4:n.540-2A>C
ENST00000467505.5:c.138-11063A>C ENSP00000434702.1:n.138-11063A>C
ENST00000525036.1:n.702-2A>C
NM_000321.2:c.540-2A>C , LRG_517t1:c.540-2A>C NP_000312.2:n.540-2A>C
XM_011535171.1:c.279-2A>C XP_011533473.1:n.279-2A>C
XM_011535171.2:c.279-2A>C XP_011533473.1:n.279-2A>C
NM_000321.3:c.540-2A>C MANE Select NP_000312.2:n.540-2A>C
Search 100 bp 5'
Search 100 bp 3'