Canonical Allele Identifier: CA2575413704

Gene: RB1

Linked Data

• gnomAD v4: 13-48476921-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476921C>G , CM000675.2:g.48476921C>G	GRCh38
NC_000013.10:g.49051057C>G , CM000675.1:g.49051057C>G	GRCh37
NC_000013.9:g.47949058C>G	NCBI36
NG_009009.1:g.178175C>G , LRG_517:g.178175C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+78C>G MANE Select	ENSP00000267163.4:n.2663+78C>G
ENST00000643064.1:c.194+95478C>G
ENST00000650461.1:c.2663+78C>G	ENSP00000497193.1:n.2663+78C>G
ENST00000267163.4:c.2663+78C>G	ENSP00000267163.4:n.2663+78C>G
ENST00000484879.1:n.397+78C>G
ENST00000531171.5:n.266+78C>G
NM_000321.2:c.2663+78C>G , LRG_517t1:c.2663+78C>G	NP_000312.2:n.2663+78C>G
XM_011535171.1:c.2402+78C>G	XP_011533473.1:n.2402+78C>G
XM_011535171.2:c.2402+78C>G	XP_011533473.1:n.2402+78C>G
NM_000321.3:c.2663+78C>G MANE Select	NP_000312.2:n.2663+78C>G