Canonical Allele Identifier: CA2529693509
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342535T>A , CM000675.2:g.48342535T>A GRCh38
NC_000013.10:g.48916671T>A , CM000675.1:g.48916671T>A GRCh37
NC_000013.9:g.47814672T>A NCBI36
NG_009009.1:g.43789T>A , LRG_517:g.43789T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.265-64T>A MANE Select ENSP00000267163.4:n.265-64T>A
ENST00000650461.1:c.265-64T>A ENSP00000497193.1:n.265-64T>A
ENST00000267163.4:c.265-64T>A ENSP00000267163.4:n.265-64T>A
ENST00000467505.5:c.138-17482T>A ENSP00000434702.1:n.138-17482T>A
ENST00000525036.1:n.427-64T>A
NM_000321.2:c.265-64T>A , LRG_517t1:c.265-64T>A NP_000312.2:n.265-64T>A
XM_011535171.1:c.4-64T>A XP_011533473.1:n.4-64T>A
XM_011535171.2:c.4-64T>A XP_011533473.1:n.4-64T>A
NM_000321.3:c.265-64T>A MANE Select NP_000312.2:n.265-64T>A