Canonical Allele Identifier: CA388160081

Gene: RB1

Linked Data

• gnomAD v4: 13-48364964-T-A
• MyVariant Identifiers: chr13:g.48939100T>A (hg19) ; chr13:g.48364964T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364964T>A , CM000675.2:g.48364964T>A	GRCh38
NC_000013.10:g.48939100T>A , CM000675.1:g.48939100T>A	GRCh37
NC_000013.9:g.47837101T>A	NCBI36
NG_009009.1:g.66218T>A , LRG_517:g.66218T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.932T>A MANE Select	ENSP00000267163.4:p.Leu311His
ENST00000650461.1:c.932T>A	ENSP00000497193.1:p.Leu311His
ENST00000267163.4:c.932T>A	ENSP00000267163.4:p.Leu311His
NM_000321.2:c.932T>A , LRG_517t1:c.932T>A	NP_000312.2:p.Leu311His
XM_011535171.1:c.671T>A	XP_011533473.1:p.Leu224His
XM_011535171.2:c.671T>A	XP_011533473.1:p.Leu224His
XR_002957522.1:n.134A>T
NM_000321.3:c.932T>A MANE Select	NP_000312.2:p.Leu311His