Canonical Allele Identifier: CA343644720
Gene: RNASEL HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.182555428G>T (hg19) chr1:g.182586293G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586293G>T , CM000663.2:g.182586293G>T GRCh38
NC_000001.10:g.182555428G>T , CM000663.1:g.182555428G>T GRCh37
NC_000001.9:g.180822051G>T NCBI36
NG_009024.2:g.5681C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.514C>A MANE Select ENSP00000356530.3:p.Leu172Ile
ENST00000539397.1:c.514C>A ENSP00000440844.1:p.Leu172Ile
NM_021133.3:c.514C>A NP_066956.1:p.Leu172Ile
XM_005245411.2:c.514C>A XP_005245468.1:p.Leu172Ile
XR_001737359.1:n.797C>A
XR_001737360.1:n.797C>A
NM_021133.4:c.514C>A MANE Select NP_066956.1:p.Leu172Ile
Search 100 bp 5'
Search 100 bp 3'