Canonical Allele Identifier: CA483558056

Gene: RB1

Linked Data

• gnomAD v4: 13-48364950-A-G
• MyVariant Identifiers: chr13:g.48939086A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364950A>G , CM000675.2:g.48364950A>G	GRCh38
NC_000013.10:g.48939086A>G , CM000675.1:g.48939086A>G	GRCh37
NC_000013.9:g.47837087A>G	NCBI36
NG_009009.1:g.66204A>G , LRG_517:g.66204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.918A>G MANE Select	ENSP00000267163.4:p.Val306=
ENST00000650461.1:c.918A>G	ENSP00000497193.1:p.Val306=
ENST00000267163.4:c.918A>G	ENSP00000267163.4:p.Val306=
NM_000321.2:c.918A>G , LRG_517t1:c.918A>G	NP_000312.2:p.Val306=
XM_011535171.1:c.657A>G	XP_011533473.1:p.Val219=
XM_011535171.2:c.657A>G	XP_011533473.1:p.Val219=
XR_002957522.1:n.148T>C
NM_000321.3:c.918A>G MANE Select	NP_000312.2:p.Val306=