Canonical Allele Identifier: CA2622986086

Gene: RB1

Linked Data

• gnomAD v4: 13-48476559-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476559A>T , CM000675.2:g.48476559A>T	GRCh38
NC_000013.10:g.49050695A>T , CM000675.1:g.49050695A>T	GRCh37
NC_000013.9:g.47948696A>T	NCBI36
NG_009009.1:g.177813A>T , LRG_517:g.177813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2521-142A>T MANE Select	ENSP00000267163.4:n.2521-142A>T
ENST00000643064.1:c.194+95116A>T
ENST00000650461.1:c.2521-142A>T	ENSP00000497193.1:n.2521-142A>T
ENST00000267163.4:c.2521-142A>T	ENSP00000267163.4:n.2521-142A>T
ENST00000484879.1:n.113A>T
ENST00000531171.5:n.123+37A>T
NM_000321.2:c.2521-142A>T , LRG_517t1:c.2521-142A>T	NP_000312.2:n.2521-142A>T
XM_011535171.1:c.2260-142A>T	XP_011533473.1:n.2260-142A>T
XM_011535171.2:c.2260-142A>T	XP_011533473.1:n.2260-142A>T
NM_000321.3:c.2521-142A>T MANE Select	NP_000312.2:n.2521-142A>T