Canonical Allele Identifier: CA343644734
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs2102371655
MyVariant Identifiers: chr1:g.182555431C>T (hg19) chr1:g.182586296C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586296C>T , CM000663.2:g.182586296C>T GRCh38
NC_000001.10:g.182555431C>T , CM000663.1:g.182555431C>T GRCh37
NC_000001.9:g.180822054C>T NCBI36
NG_009024.2:g.5678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.511G>A MANE Select ENSP00000356530.3:p.Ala171Thr
ENST00000539397.1:c.511G>A ENSP00000440844.1:p.Ala171Thr
NM_021133.3:c.511G>A NP_066956.1:p.Ala171Thr
XM_005245411.2:c.511G>A XP_005245468.1:p.Ala171Thr
XR_001737359.1:n.794G>A
XR_001737360.1:n.794G>A
NM_021133.4:c.511G>A MANE Select NP_066956.1:p.Ala171Thr
Search 100 bp 5'
Search 100 bp 3'