Canonical Allele Identifier: CA2622979127

Gene: RB1

Linked Data

• dbSNP Id: rs2138093217
• gnomAD v4: 13-48348894-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348894G>A , CM000675.2:g.48348894G>A	GRCh38
NC_000013.10:g.48923030G>A , CM000675.1:g.48923030G>A	GRCh37
NC_000013.9:g.47821031G>A	NCBI36
NG_009009.1:g.50148G>A , LRG_517:g.50148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-62G>A MANE Select	ENSP00000267163.4:n.540-62G>A
ENST00000650461.1:c.540-62G>A	ENSP00000497193.1:n.540-62G>A
ENST00000267163.4:c.540-62G>A	ENSP00000267163.4:n.540-62G>A
ENST00000467505.5:c.138-11123G>A	ENSP00000434702.1:n.138-11123G>A
ENST00000525036.1:n.702-62G>A
NM_000321.2:c.540-62G>A , LRG_517t1:c.540-62G>A	NP_000312.2:n.540-62G>A
XM_011535171.1:c.279-62G>A	XP_011533473.1:n.279-62G>A
XM_011535171.2:c.279-62G>A	XP_011533473.1:n.279-62G>A
NM_000321.3:c.540-62G>A MANE Select	NP_000312.2:n.540-62G>A