Canonical Allele Identifier: CA2622980149
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48364866-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364866G>T , CM000675.2:g.48364866G>T GRCh38
NC_000013.10:g.48939002G>T , CM000675.1:g.48939002G>T GRCh37
NC_000013.9:g.47837003G>T NCBI36
NG_009009.1:g.66120G>T , LRG_517:g.66120G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-28G>T MANE Select ENSP00000267163.4:n.862-28G>T
ENST00000650461.1:c.862-28G>T ENSP00000497193.1:n.862-28G>T
ENST00000267163.4:c.862-28G>T ENSP00000267163.4:n.862-28G>T
NM_000321.2:c.862-28G>T , LRG_517t1:c.862-28G>T NP_000312.2:n.862-28G>T
XM_011535171.1:c.601-28G>T XP_011533473.1:n.601-28G>T
XM_011535171.2:c.601-28G>T XP_011533473.1:n.601-28G>T
NM_000321.3:c.862-28G>T MANE Select NP_000312.2:n.862-28G>T
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