Canonical Allele Identifier: CA034052

Gene: RB1

Linked Data

• dbSNP Id: rs377126225
• ExAC: 13:49033993 T / G
• gnomAD v2: 13-49033993-T-G
• gnomAD v3: 13-48459857-T-G
• gnomAD v4: 13-48459857-T-G
• MyVariant Identifiers: chr13:g.49033993T>G (hg19) ; chr13:g.48459857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459857T>G , CM000675.2:g.48459857T>G	GRCh38
NC_000013.10:g.49033993T>G , CM000675.1:g.49033993T>G	GRCh37
NC_000013.9:g.47931994T>G	NCBI36
NG_009009.1:g.161111T>G , LRG_517:g.161111T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2106+24T>G MANE Select	ENSP00000267163.4:n.2106+24T>G
ENST00000643064.1:c.194+78414T>G
ENST00000650461.1:c.2106+24T>G	ENSP00000497193.1:n.2106+24T>G
ENST00000267163.4:c.2106+24T>G	ENSP00000267163.4:n.2106+24T>G
NM_000321.2:c.2106+24T>G , LRG_517t1:c.2106+24T>G	NP_000312.2:n.2106+24T>G
XM_011535171.1:c.1845+24T>G	XP_011533473.1:n.1845+24T>G
XM_011535171.2:c.1845+24T>G	XP_011533473.1:n.1845+24T>G
NM_000321.3:c.2106+24T>G MANE Select	NP_000312.2:n.2106+24T>G