Canonical Allele Identifier: CA388160050

Gene: RB1

Linked Data

• dbSNP Id: rs2138116606
• gnomAD v4: 13-48364955-C-A
• MyVariant Identifiers: chr13:g.48939091C>A (hg19) ; chr13:g.48364955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364955C>A , CM000675.2:g.48364955C>A	GRCh38
NC_000013.10:g.48939091C>A , CM000675.1:g.48939091C>A	GRCh37
NC_000013.9:g.47837092C>A	NCBI36
NG_009009.1:g.66209C>A , LRG_517:g.66209C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.923C>A MANE Select	ENSP00000267163.4:p.Ser308Tyr
ENST00000650461.1:c.923C>A	ENSP00000497193.1:p.Ser308Tyr
ENST00000267163.4:c.923C>A	ENSP00000267163.4:p.Ser308Tyr
NM_000321.2:c.923C>A , LRG_517t1:c.923C>A	NP_000312.2:p.Ser308Tyr
XM_011535171.1:c.662C>A	XP_011533473.1:p.Ser221Tyr
XM_011535171.2:c.662C>A	XP_011533473.1:p.Ser221Tyr
XR_002957522.1:n.143G>T
NM_000321.3:c.923C>A MANE Select	NP_000312.2:p.Ser308Tyr