Canonical Allele Identifier: CA483558296
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs750094760
MyVariant Identifiers: chr13:g.48942708G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368572G>A , CM000675.2:g.48368572G>A GRCh38
NC_000013.10:g.48942708G>A , CM000675.1:g.48942708G>A GRCh37
NC_000013.9:g.47840709G>A NCBI36
NG_009009.1:g.69826G>A , LRG_517:g.69826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1095G>A MANE Select ENSP00000267163.4:p.Glu365=
ENST00000650461.1:c.1095G>A ENSP00000497193.1:p.Glu365=
ENST00000267163.4:c.1095G>A ENSP00000267163.4:p.Glu365=
NM_000321.2:c.1095G>A , LRG_517t1:c.1095G>A NP_000312.2:p.Glu365=
XM_011535171.1:c.834G>A XP_011533473.1:p.Glu278=
XM_011535171.2:c.834G>A XP_011533473.1:p.Glu278=
XR_002957522.1:n.122-3596C>T
NM_000321.3:c.1095G>A MANE Select NP_000312.2:p.Glu365=
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