Canonical Allele Identifier: CA1278272
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs761279135
ExAC: 1:182555454 C / G
gnomAD v2: 1-182555454-C-G
gnomAD v4: 1-182586319-C-G
MyVariant Identifiers: chr1:g.182555454C>G (hg19) chr1:g.182586319C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586319C>G , CM000663.2:g.182586319C>G GRCh38
NC_000001.10:g.182555454C>G , CM000663.1:g.182555454C>G GRCh37
NC_000001.9:g.180822077C>G NCBI36
NG_009024.2:g.5655G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.488G>C MANE Select ENSP00000356530.3:p.Arg163Pro
ENST00000539397.1:c.488G>C ENSP00000440844.1:p.Arg163Pro
NM_021133.3:c.488G>C NP_066956.1:p.Arg163Pro
XM_005245411.2:c.488G>C XP_005245468.1:p.Arg163Pro
XR_001737359.1:n.771G>C
XR_001737360.1:n.771G>C
NM_021133.4:c.488G>C MANE Select NP_066956.1:p.Arg163Pro
Search 100 bp 5'
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