Canonical Allele Identifier: CA388160102
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48939107G>C (hg19) chr13:g.48364971G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364971G>C , CM000675.2:g.48364971G>C GRCh38
NC_000013.10:g.48939107G>C , CM000675.1:g.48939107G>C GRCh37
NC_000013.9:g.47837108G>C NCBI36
NG_009009.1:g.66225G>C , LRG_517:g.66225G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.939G>C MANE Select ENSP00000267163.4:p.Glu313Asp
ENST00000650461.1:c.939G>C ENSP00000497193.1:p.Glu313Asp
ENST00000267163.4:c.939G>C ENSP00000267163.4:p.Glu313Asp
NM_000321.2:c.939G>C , LRG_517t1:c.939G>C NP_000312.2:p.Glu313Asp
XM_011535171.1:c.678G>C XP_011533473.1:p.Glu226Asp
XM_011535171.2:c.678G>C XP_011533473.1:p.Glu226Asp
XR_002957522.1:n.127C>G
NM_000321.3:c.939G>C MANE Select NP_000312.2:p.Glu313Asp
Search 100 bp 5'
Search 100 bp 3'