Canonical Allele Identifier: CA122815
Gene: RNASEL HGNC NCBI

Linked Data

ClinVar Variation Id: 13005
ClinVar RCV Id: RCV000013879
dbSNP Id: rs74315365
ExAC: 1:182555939 C / T
gnomAD v2: 1-182555939-C-T
gnomAD v3: 1-182586804-C-T
gnomAD v4: 1-182586804-C-T
MyVariant Identifiers: chr1:g.182555939C>T (hg19) chr1:g.182586804C>T (hg38)
PubMed: PMID:11799394
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586804C>T , CM000663.2:g.182586804C>T GRCh38
NC_000001.10:g.182555939C>T , CM000663.1:g.182555939C>T GRCh37
NC_000001.9:g.180822562C>T NCBI36
NG_009024.2:g.5170G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367559.7:c.3G>A MANE Select ENSP00000356530.3:p.Met1Ile
ENST00000539397.1:c.3G>A ENSP00000440844.1:p.Met1Ile
NM_021133.3:c.3G>A NP_066956.1:p.Met1Ile
XM_005245411.2:c.3G>A XP_005245468.1:p.Met1Ile
XR_001737359.1:n.286G>A
XR_001737360.1:n.286G>A
NM_021133.4:c.3G>A MANE Select NP_066956.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'