Canonical Allele Identifier: CA609575370
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1185275892
gnomAD v2: 13-48939008-G-A
gnomAD v4: 13-48364872-G-A
MyVariant Identifiers: chr13:g.48939008G>A (hg19) chr13:g.48364872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364872G>A , CM000675.2:g.48364872G>A GRCh38
NC_000013.10:g.48939008G>A , CM000675.1:g.48939008G>A GRCh37
NC_000013.9:g.47837009G>A NCBI36
NG_009009.1:g.66126G>A , LRG_517:g.66126G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-22G>A MANE Select ENSP00000267163.4:n.862-22G>A
ENST00000650461.1:c.862-22G>A ENSP00000497193.1:n.862-22G>A
ENST00000267163.4:c.862-22G>A ENSP00000267163.4:n.862-22G>A
NM_000321.2:c.862-22G>A , LRG_517t1:c.862-22G>A NP_000312.2:n.862-22G>A
XM_011535171.1:c.601-22G>A XP_011533473.1:n.601-22G>A
XM_011535171.2:c.601-22G>A XP_011533473.1:n.601-22G>A
NM_000321.3:c.862-22G>A MANE Select NP_000312.2:n.862-22G>A
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