Canonical Allele Identifier: CA2622979080

Gene: RB1

Linked Data

• gnomAD v4: 13-48348831-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348831T>C , CM000675.2:g.48348831T>C	GRCh38
NC_000013.10:g.48922967T>C , CM000675.1:g.48922967T>C	GRCh37
NC_000013.9:g.47820968T>C	NCBI36
NG_009009.1:g.50085T>C , LRG_517:g.50085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-125T>C MANE Select	ENSP00000267163.4:n.540-125T>C
ENST00000650461.1:c.540-125T>C	ENSP00000497193.1:n.540-125T>C
ENST00000267163.4:c.540-125T>C	ENSP00000267163.4:n.540-125T>C
ENST00000467505.5:c.138-11186T>C	ENSP00000434702.1:n.138-11186T>C
ENST00000525036.1:n.702-125T>C
NM_000321.2:c.540-125T>C , LRG_517t1:c.540-125T>C	NP_000312.2:n.540-125T>C
XM_011535171.1:c.279-125T>C	XP_011533473.1:n.279-125T>C
XM_011535171.2:c.279-125T>C	XP_011533473.1:n.279-125T>C
NM_000321.3:c.540-125T>C MANE Select	NP_000312.2:n.540-125T>C