Canonical Allele Identifier: CA2622978387

Gene: RB1

Linked Data

• gnomAD v4: 13-48342537-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342537A>T , CM000675.2:g.48342537A>T	GRCh38
NC_000013.10:g.48916673A>T , CM000675.1:g.48916673A>T	GRCh37
NC_000013.9:g.47814674A>T	NCBI36
NG_009009.1:g.43791A>T , LRG_517:g.43791A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.265-62A>T MANE Select	ENSP00000267163.4:n.265-62A>T
ENST00000650461.1:c.265-62A>T	ENSP00000497193.1:n.265-62A>T
ENST00000267163.4:c.265-62A>T	ENSP00000267163.4:n.265-62A>T
ENST00000467505.5:c.138-17480A>T	ENSP00000434702.1:n.138-17480A>T
ENST00000525036.1:n.427-62A>T
NM_000321.2:c.265-62A>T , LRG_517t1:c.265-62A>T	NP_000312.2:n.265-62A>T
XM_011535171.1:c.4-62A>T	XP_011533473.1:n.4-62A>T
XM_011535171.2:c.4-62A>T	XP_011533473.1:n.4-62A>T
NM_000321.3:c.265-62A>T MANE Select	NP_000312.2:n.265-62A>T