Canonical Allele Identifier: CA2622984785

Gene: RB1

Linked Data

• gnomAD v4: 13-48452879-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452879G>C , CM000675.2:g.48452879G>C	GRCh38
NC_000013.10:g.49027015G>C , CM000675.1:g.49027015G>C	GRCh37
NC_000013.9:g.47925016G>C	NCBI36
NG_009009.1:g.154133G>C , LRG_517:g.154133G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1696-114G>C MANE Select	ENSP00000267163.4:n.1696-114G>C
ENST00000643064.1:c.194+71436G>C
ENST00000650461.1:c.1696-114G>C	ENSP00000497193.1:n.1696-114G>C
ENST00000267163.4:c.1696-114G>C	ENSP00000267163.4:n.1696-114G>C
ENST00000480491.1:n.395-114G>C
NM_000321.2:c.1696-114G>C , LRG_517t1:c.1696-114G>C	NP_000312.2:n.1696-114G>C
XM_011535171.1:c.1435-114G>C	XP_011533473.1:n.1435-114G>C
XM_011535171.2:c.1435-114G>C	XP_011533473.1:n.1435-114G>C
NM_000321.3:c.1696-114G>C MANE Select	NP_000312.2:n.1696-114G>C