Canonical Allele Identifier: CA1278265
Gene: RNASEL HGNC NCBI

Linked Data

ClinVar Variation Id: 2435441
ClinVar RCV Id: RCV003135777
dbSNP Id: rs778121904
ExAC: 1:182555416 C / T
gnomAD v2: 1-182555416-C-T
gnomAD v3: 1-182586281-C-T
gnomAD v4: 1-182586281-C-T
MyVariant Identifiers: chr1:g.182555416C>T (hg19) chr1:g.182586281C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586281C>T , CM000663.2:g.182586281C>T GRCh38
NC_000001.10:g.182555416C>T , CM000663.1:g.182555416C>T GRCh37
NC_000001.9:g.180822039C>T NCBI36
NG_009024.2:g.5693G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.526G>A MANE Select ENSP00000356530.3:p.Ala176Thr
ENST00000539397.1:c.526G>A ENSP00000440844.1:p.Ala176Thr
NM_021133.3:c.526G>A NP_066956.1:p.Ala176Thr
XM_005245411.2:c.526G>A XP_005245468.1:p.Ala176Thr
XR_001737359.1:n.809G>A
XR_001737360.1:n.809G>A
NM_021133.4:c.526G>A MANE Select NP_066956.1:p.Ala176Thr
Search 100 bp 5'
Search 100 bp 3'