Canonical Allele Identifier: CA343644905
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs1249692465
gnomAD v3: 1-182586346-C-T
gnomAD v4: 1-182586346-C-T
MyVariant Identifiers: chr1:g.182555481C>T (hg19) chr1:g.182586346C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586346C>T , CM000663.2:g.182586346C>T GRCh38
NC_000001.10:g.182555481C>T , CM000663.1:g.182555481C>T GRCh37
NC_000001.9:g.180822104C>T NCBI36
NG_009024.2:g.5628G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.461G>A MANE Select ENSP00000356530.3:p.Arg154Lys
ENST00000539397.1:c.461G>A ENSP00000440844.1:p.Arg154Lys
NM_021133.3:c.461G>A NP_066956.1:p.Arg154Lys
XM_005245411.2:c.461G>A XP_005245468.1:p.Arg154Lys
XR_001737359.1:n.744G>A
XR_001737360.1:n.744G>A
NM_021133.4:c.461G>A MANE Select NP_066956.1:p.Arg154Lys
Search 100 bp 5'
Search 100 bp 3'