Canonical Allele Identifier: CA698682072
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1326833860
MyVariant Identifiers: chr13:g.49033698G>A (hg19) chr13:g.48459562G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459562G>A , CM000675.2:g.48459562G>A GRCh38
NC_000013.10:g.49033698G>A , CM000675.1:g.49033698G>A GRCh37
NC_000013.9:g.47931699G>A NCBI36
NG_009009.1:g.160816G>A , LRG_517:g.160816G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-126G>A MANE Select ENSP00000267163.4:n.1961-126G>A
ENST00000643064.1:c.194+78119G>A
ENST00000650461.1:c.1961-126G>A ENSP00000497193.1:n.1961-126G>A
ENST00000267163.4:c.1961-126G>A ENSP00000267163.4:n.1961-126G>A
NM_000321.2:c.1961-126G>A , LRG_517t1:c.1961-126G>A NP_000312.2:n.1961-126G>A
XM_011535171.1:c.1700-126G>A XP_011533473.1:n.1700-126G>A
XM_011535171.2:c.1700-126G>A XP_011533473.1:n.1700-126G>A
NM_000321.3:c.1961-126G>A MANE Select NP_000312.2:n.1961-126G>A
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