Canonical Allele Identifier: CA249305377

Gene: RB1

Linked Data

• dbSNP Id: rs986195109
• gnomAD v3: 13-48452957-A-C
• gnomAD v4: 13-48452957-A-C
• MyVariant Identifiers: chr13:g.49027093A>C (hg19) ; chr13:g.48452957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452957A>C , CM000675.2:g.48452957A>C	GRCh38
NC_000013.10:g.49027093A>C , CM000675.1:g.49027093A>C	GRCh37
NC_000013.9:g.47925094A>C	NCBI36
NG_009009.1:g.154211A>C , LRG_517:g.154211A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-36A>C MANE Select	ENSP00000267163.4:n.1696-36A>C
ENST00000643064.1:c.194+71514A>C
ENST00000650461.1:c.1696-36A>C	ENSP00000497193.1:n.1696-36A>C
ENST00000267163.4:c.1696-36A>C	ENSP00000267163.4:n.1696-36A>C
ENST00000480491.1:n.395-36A>C
NM_000321.2:c.1696-36A>C , LRG_517t1:c.1696-36A>C	NP_000312.2:n.1696-36A>C
XM_011535171.1:c.1435-36A>C	XP_011533473.1:n.1435-36A>C
XM_011535171.2:c.1435-36A>C	XP_011533473.1:n.1435-36A>C
NM_000321.3:c.1696-36A>C MANE Select	NP_000312.2:n.1696-36A>C