Canonical Allele Identifier: CA2622984779
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48452873-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48452873G>A , CM000675.2:g.48452873G>A GRCh38
NC_000013.10:g.49027009G>A , CM000675.1:g.49027009G>A GRCh37
NC_000013.9:g.47925010G>A NCBI36
NG_009009.1:g.154127G>A , LRG_517:g.154127G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1696-120G>A MANE Select ENSP00000267163.4:n.1696-120G>A
ENST00000643064.1:c.194+71430G>A
ENST00000650461.1:c.1696-120G>A ENSP00000497193.1:n.1696-120G>A
ENST00000267163.4:c.1696-120G>A ENSP00000267163.4:n.1696-120G>A
ENST00000480491.1:n.395-120G>A
NM_000321.2:c.1696-120G>A , LRG_517t1:c.1696-120G>A NP_000312.2:n.1696-120G>A
XM_011535171.1:c.1435-120G>A XP_011533473.1:n.1435-120G>A
XM_011535171.2:c.1435-120G>A XP_011533473.1:n.1435-120G>A
NM_000321.3:c.1696-120G>A MANE Select NP_000312.2:n.1696-120G>A
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