Canonical Allele Identifier: CA892092664
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs533259
gnomAD v3: 1-182579884-A-T
gnomAD v4: 1-182579884-A-T
MyVariant Identifiers: chr1:g.182549019A>T (hg19) chr1:g.182579884A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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