Canonical Allele Identifier: CA388168193

Gene: RB1

Linked Data

• gnomAD v4: 13-48476708-A-C
• MyVariant Identifiers: chr13:g.49050844A>C (hg19) ; chr13:g.48476708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476708A>C , CM000675.2:g.48476708A>C	GRCh38
NC_000013.10:g.49050844A>C , CM000675.1:g.49050844A>C	GRCh37
NC_000013.9:g.47948845A>C	NCBI36
NG_009009.1:g.177962A>C , LRG_517:g.177962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2528A>C MANE Select	ENSP00000267163.4:p.Glu843Ala
ENST00000643064.1:c.194+95265A>C
ENST00000650461.1:c.2528A>C	ENSP00000497193.1:p.Glu843Ala
ENST00000267163.4:c.2528A>C	ENSP00000267163.4:p.Glu843Ala
ENST00000484879.1:n.262A>C
ENST00000531171.5:n.131A>C
NM_000321.2:c.2528A>C , LRG_517t1:c.2528A>C	NP_000312.2:p.Glu843Ala
XM_011535171.1:c.2267A>C	XP_011533473.1:p.Glu756Ala
XM_011535171.2:c.2267A>C	XP_011533473.1:p.Glu756Ala
NM_000321.3:c.2528A>C MANE Select	NP_000312.2:p.Glu843Ala