Canonical Allele Identifier: CA343643843
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs1427203520
gnomAD v3: 1-182586109-T-C
gnomAD v4: 1-182586109-T-C
COSMIC: COSM414271
MyVariant Identifiers: chr1:g.182555244T>C (hg19) chr1:g.182586109T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586109T>C , CM000663.2:g.182586109T>C GRCh38
NC_000001.10:g.182555244T>C , CM000663.1:g.182555244T>C GRCh37
NC_000001.9:g.180821867T>C NCBI36
NG_009024.2:g.5865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.698A>G MANE Select ENSP00000356530.3:p.Asn233Ser
ENST00000539397.1:c.698A>G ENSP00000440844.1:p.Asn233Ser
NM_021133.3:c.698A>G NP_066956.1:p.Asn233Ser
XM_005245411.2:c.698A>G XP_005245468.1:p.Asn233Ser
XR_001737359.1:n.981A>G
XR_001737360.1:n.981A>G
NM_021133.4:c.698A>G MANE Select NP_066956.1:p.Asn233Ser
Search 100 bp 5'
Search 100 bp 3'