Canonical Allele Identifier: CA1278274
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs773007857
ExAC: 1:182555463 T / A
gnomAD v2: 1-182555463-T-A
gnomAD v4: 1-182586328-T-A
MyVariant Identifiers: chr1:g.182555463T>A (hg19) chr1:g.182586328T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586328T>A , CM000663.2:g.182586328T>A GRCh38
NC_000001.10:g.182555463T>A , CM000663.1:g.182555463T>A GRCh37
NC_000001.9:g.180822086T>A NCBI36
NG_009024.2:g.5646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.479A>T MANE Select ENSP00000356530.3:p.Asp160Val
ENST00000539397.1:c.479A>T ENSP00000440844.1:p.Asp160Val
NM_021133.3:c.479A>T NP_066956.1:p.Asp160Val
XM_005245411.2:c.479A>T XP_005245468.1:p.Asp160Val
XR_001737359.1:n.762A>T
XR_001737360.1:n.762A>T
NM_021133.4:c.479A>T MANE Select NP_066956.1:p.Asp160Val
Search 100 bp 5'
Search 100 bp 3'