×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA343643402
Gene: RNASEL
HGNC
NCBI
Linked Data
dbSNP Id:
rs1558476552
gnomAD v4:
1-182585984-T-A
MyVariant Identifiers:
chr1:g.182555119T>A (hg19)
chr1:g.182585984T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182585984T>A , CM000663.2:g.182585984T>A
GRCh38
NC_000001.10:g.182555119T>A , CM000663.1:g.182555119T>A
GRCh37
NC_000001.9:g.180821742T>A
NCBI36
NG_009024.2:g.5990A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000367559.7:c.823A>T
MANE Select
ENSP00000356530.3:p.Thr275Ser
ENST00000539397.1:c.823A>T
ENSP00000440844.1:p.Thr275Ser
NM_021133.3:c.823A>T
NP_066956.1:p.Thr275Ser
XM_005245411.2:c.823A>T
XP_005245468.1:p.Thr275Ser
XR_001737359.1:n.1106A>T
XR_001737360.1:n.1106A>T
NM_021133.4:c.823A>T
MANE Select
NP_066956.1:p.Thr275Ser
Search 100 bp 5'
Search 100 bp 3'