Canonical Allele Identifier: CA483559643
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48955549T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381413T>C , CM000675.2:g.48381413T>C GRCh38
NC_000013.10:g.48955549T>C , CM000675.1:g.48955549T>C GRCh37
NC_000013.9:g.47853550T>C NCBI36
NG_009009.1:g.82667T>C , LRG_517:g.82667T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1665T>C MANE Select ENSP00000267163.4:p.His555=
ENST00000643064.1:c.164T>C
ENST00000650461.1:c.1665T>C ENSP00000497193.1:p.His555=
ENST00000267163.4:c.1665T>C ENSP00000267163.4:p.His555=
NM_000321.2:c.1665T>C , LRG_517t1:c.1665T>C NP_000312.2:p.His555=
XM_011535171.1:c.1404T>C XP_011533473.1:p.His468=
XM_011535171.2:c.1404T>C XP_011533473.1:p.His468=
NM_000321.3:c.1665T>C MANE Select NP_000312.2:p.His555=
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