Canonical Allele Identifier: CA483558071

Gene: RB1

Linked Data

• gnomAD v4: 13-48364962-A-G
• MyVariant Identifiers: chr13:g.48939098A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364962A>G , CM000675.2:g.48364962A>G	GRCh38
NC_000013.10:g.48939098A>G , CM000675.1:g.48939098A>G	GRCh37
NC_000013.9:g.47837099A>G	NCBI36
NG_009009.1:g.66216A>G , LRG_517:g.66216A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.930A>G MANE Select	ENSP00000267163.4:p.Gly310=
ENST00000650461.1:c.930A>G	ENSP00000497193.1:p.Gly310=
ENST00000267163.4:c.930A>G	ENSP00000267163.4:p.Gly310=
NM_000321.2:c.930A>G , LRG_517t1:c.930A>G	NP_000312.2:p.Gly310=
XM_011535171.1:c.669A>G	XP_011533473.1:p.Gly223=
XM_011535171.2:c.669A>G	XP_011533473.1:p.Gly223=
XR_002957522.1:n.136T>C
NM_000321.3:c.930A>G MANE Select	NP_000312.2:p.Gly310=