Canonical Allele Identifier: CA1278253
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs774281968
ExAC: 1:182555361 T / A
gnomAD v2: 1-182555361-T-A
gnomAD v4: 1-182586226-T-A
MyVariant Identifiers: chr1:g.182555361T>A (hg19) chr1:g.182586226T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586226T>A , CM000663.2:g.182586226T>A GRCh38
NC_000001.10:g.182555361T>A , CM000663.1:g.182555361T>A GRCh37
NC_000001.9:g.180821984T>A NCBI36
NG_009024.2:g.5748A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.581A>T MANE Select ENSP00000356530.3:p.Asp194Val
ENST00000539397.1:c.581A>T ENSP00000440844.1:p.Asp194Val
NM_021133.3:c.581A>T NP_066956.1:p.Asp194Val
XM_005245411.2:c.581A>T XP_005245468.1:p.Asp194Val
XR_001737359.1:n.864A>T
XR_001737360.1:n.864A>T
NM_021133.4:c.581A>T MANE Select NP_066956.1:p.Asp194Val
Search 100 bp 5'
Search 100 bp 3'