Canonical Allele Identifier: CA388161358
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368595C>A , CM000675.2:g.48368595C>A GRCh38
NC_000013.10:g.48942731C>A , CM000675.1:g.48942731C>A GRCh37
NC_000013.9:g.47840732C>A NCBI36
NG_009009.1:g.69849C>A , LRG_517:g.69849C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1118C>A MANE Select ENSP00000267163.4:p.Thr373Asn
ENST00000650461.1:c.1118C>A ENSP00000497193.1:p.Thr373Asn
ENST00000267163.4:c.1118C>A ENSP00000267163.4:p.Thr373Asn
NM_000321.2:c.1118C>A , LRG_517t1:c.1118C>A NP_000312.2:p.Thr373Asn
XM_011535171.1:c.857C>A XP_011533473.1:p.Thr286Asn
XM_011535171.2:c.857C>A XP_011533473.1:p.Thr286Asn
XR_002957522.1:n.122-3619G>T
NM_000321.3:c.1118C>A MANE Select NP_000312.2:p.Thr373Asn