Canonical Allele Identifier: CA422275989
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs2102371441
MyVariant Identifiers: chr1:g.182555351G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586216G>A , CM000663.2:g.182586216G>A GRCh38
NC_000001.10:g.182555351G>A , CM000663.1:g.182555351G>A GRCh37
NC_000001.9:g.180821974G>A NCBI36
NG_009024.2:g.5758C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.591C>T MANE Select ENSP00000356530.3:p.Ala197=
ENST00000539397.1:c.591C>T ENSP00000440844.1:p.Ala197=
NM_021133.3:c.591C>T NP_066956.1:p.Ala197=
XM_005245411.2:c.591C>T XP_005245468.1:p.Ala197=
XR_001737359.1:n.874C>T
XR_001737360.1:n.874C>T
NM_021133.4:c.591C>T MANE Select NP_066956.1:p.Ala197=
Search 100 bp 5'
Search 100 bp 3'