Canonical Allele Identifier: CA2622986203
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48476974-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476974A>C , CM000675.2:g.48476974A>C GRCh38
NC_000013.10:g.49051110A>C , CM000675.1:g.49051110A>C GRCh37
NC_000013.9:g.47949111A>C NCBI36
NG_009009.1:g.178228A>C , LRG_517:g.178228A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2663+131A>C MANE Select ENSP00000267163.4:n.2663+131A>C
ENST00000643064.1:c.194+95531A>C
ENST00000650461.1:c.2663+131A>C ENSP00000497193.1:n.2663+131A>C
ENST00000267163.4:c.2663+131A>C ENSP00000267163.4:n.2663+131A>C
ENST00000484879.1:n.397+131A>C
ENST00000531171.5:n.266+131A>C
NM_000321.2:c.2663+131A>C , LRG_517t1:c.2663+131A>C NP_000312.2:n.2663+131A>C
XM_011535171.1:c.2402+131A>C XP_011533473.1:n.2402+131A>C
XM_011535171.2:c.2402+131A>C XP_011533473.1:n.2402+131A>C
NM_000321.3:c.2663+131A>C MANE Select NP_000312.2:n.2663+131A>C
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