Canonical Allele Identifier: CA343643396
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs2102371076
MyVariant Identifiers: chr1:g.182555118G>A (hg19) chr1:g.182585983G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182585983G>A , CM000663.2:g.182585983G>A GRCh38
NC_000001.10:g.182555118G>A , CM000663.1:g.182555118G>A GRCh37
NC_000001.9:g.180821741G>A NCBI36
NG_009024.2:g.5991C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367559.7:c.824C>T MANE Select ENSP00000356530.3:p.Thr275Ile
ENST00000539397.1:c.824C>T ENSP00000440844.1:p.Thr275Ile
NM_021133.3:c.824C>T NP_066956.1:p.Thr275Ile
XM_005245411.2:c.824C>T XP_005245468.1:p.Thr275Ile
XR_001737359.1:n.1107C>T
XR_001737360.1:n.1107C>T
NM_021133.4:c.824C>T MANE Select NP_066956.1:p.Thr275Ile
Search 100 bp 5'
Search 100 bp 3'