Canonical Allele Identifier: CA33882155
Gene: RNASEL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.182579884A>G
GRCh37 chr1:g.182549019A>G
gnomAD v2:
1:182549019 A / G
gnomAD v3:
1:182579884 A / G
gnomAD v4:
chr1-182579884-A-G
Joint Max Group AF 0.94934054 (AMR)
Genomes Max Group AF 0.93285441 (NFE)
Exomes Max Group AF 0.95432898 (AMR)
dbSNP:
533259
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182579884A>G , CM000663.2:g.182579884A>G GRCh38
NC_000001.10:g.182549019A>G , CM000663.1:g.182549019A>G GRCh37
NC_000001.9:g.180815642A>G NCBI36
NG_009024.2:g.12090T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.1905+1341T>C MANE Select ENSP00000356530.3:n.1905+1341T>C
ENST00000539397.1:c.*70T>C ENSP00000440844.1:n.*70T>C
NM_021133.3:c.1905+1341T>C NP_066956.1:n.1905+1341T>C
XM_005245411.2:c.*70T>C XP_005245468.1:n.*70T>C
XR_001737359.1:n.2238+74T>C
XR_001737360.1:n.2312T>C
NM_021133.4:c.1905+1341T>C MANE Select NP_066956.1:n.1905+1341T>C
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