Canonical Allele Identifier: CA388252533
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48916833G>C (hg19) chr13:g.48342697G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342697G>C , CM000675.2:g.48342697G>C GRCh38
NC_000013.10:g.48916833G>C , CM000675.1:g.48916833G>C GRCh37
NC_000013.9:g.47814834G>C NCBI36
NG_009009.1:g.43951G>C , LRG_517:g.43951G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.363G>C MANE Select ENSP00000267163.4:p.Gln121His
ENST00000650461.1:c.363G>C ENSP00000497193.1:p.Gln121His
ENST00000267163.4:c.363G>C ENSP00000267163.4:p.Gln121His
ENST00000467505.5:c.138-17320G>C ENSP00000434702.1:n.138-17320G>C
ENST00000525036.1:n.525G>C
NM_000321.2:c.363G>C , LRG_517t1:c.363G>C NP_000312.2:p.Gln121His
XM_011535171.1:c.102G>C XP_011533473.1:p.Gln34His
XM_011535171.2:c.102G>C XP_011533473.1:p.Gln34His
NM_000321.3:c.363G>C MANE Select NP_000312.2:p.Gln121His
Search 100 bp 5'
Search 100 bp 3'