Canonical Allele Identifier: CA952256
Gene: RPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 298201
ClinVar RCV Id: RCV000328444
dbSNP Id: rs376070413
ExAC: 1:93297624 G / A
gnomAD v2: 1-93297624-G-A
gnomAD v3: 1-92832067-G-A
gnomAD v4: 1-92832067-G-A
MyVariant Identifiers: chr1:g.93297624G>A (hg19) chr1:g.92832067G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92832067G>A , CM000663.2:g.92832067G>A GRCh38
NC_000001.10:g.93297624G>A , CM000663.1:g.93297624G>A GRCh37
NC_000001.9:g.93070212G>A NCBI36
NG_011779.1:g.5031G>A
NG_033051.1:g.134456C>T
NG_011779.2:g.5082G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.-48G>A MANE Select ENSP00000359345.2:n.-48G>A
ENST00000645119.1:c.-48G>A ENSP00000493811.1:n.-48G>A
ENST00000645300.1:c.-128G>A ENSP00000495589.1:n.-128G>A
ENST00000370321.7:c.-48G>A ENSP00000359345.2:n.-48G>A
ENST00000470843.5:c.-48G>A ENSP00000473675.1:n.-48G>A
NM_000969.3:c.-48G>A NP_000960.2:n.-48G>A
NM_000969.5:c.-48G>A MANE Select NP_000960.2:n.-48G>A
NR_146333.1:n.82G>A
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