Canonical Allele Identifier: CA039682

Gene: RB1

Linked Data

• dbSNP Id: rs770781083
• ExAC: 13:48939013 A / G
• gnomAD v2: 13-48939013-A-G
• MyVariant Identifiers: chr13:g.48939013A>G (hg19) ; chr13:g.48364877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364877A>G , CM000675.2:g.48364877A>G	GRCh38
NC_000013.10:g.48939013A>G , CM000675.1:g.48939013A>G	GRCh37
NC_000013.9:g.47837014A>G	NCBI36
NG_009009.1:g.66131A>G , LRG_517:g.66131A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.862-17A>G MANE Select	ENSP00000267163.4:n.862-17A>G
ENST00000650461.1:c.862-17A>G	ENSP00000497193.1:n.862-17A>G
ENST00000267163.4:c.862-17A>G	ENSP00000267163.4:n.862-17A>G
NM_000321.2:c.862-17A>G , LRG_517t1:c.862-17A>G	NP_000312.2:n.862-17A>G
XM_011535171.1:c.601-17A>G	XP_011533473.1:n.601-17A>G
XM_011535171.2:c.601-17A>G	XP_011533473.1:n.601-17A>G
NM_000321.3:c.862-17A>G MANE Select	NP_000312.2:n.862-17A>G