Canonical Allele Identifier: CA343644086
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs373482948
MyVariant Identifiers: chr1:g.182555299C>A (hg19) chr1:g.182586164C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586164C>A , CM000663.2:g.182586164C>A GRCh38
NC_000001.10:g.182555299C>A , CM000663.1:g.182555299C>A GRCh37
NC_000001.9:g.180821922C>A NCBI36
NG_009024.2:g.5810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.643G>T MANE Select ENSP00000356530.3:p.Asp215Tyr
ENST00000539397.1:c.643G>T ENSP00000440844.1:p.Asp215Tyr
NM_021133.3:c.643G>T NP_066956.1:p.Asp215Tyr
XM_005245411.2:c.643G>T XP_005245468.1:p.Asp215Tyr
XR_001737359.1:n.926G>T
XR_001737360.1:n.926G>T
NM_021133.4:c.643G>T MANE Select NP_066956.1:p.Asp215Tyr
Search 100 bp 5'
Search 100 bp 3'