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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
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Canonical Allele Identifier:
CA343643416
Gene: RNASEL
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.182555122T>G (hg19)
chr1:g.182585987T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182585987T>G , CM000663.2:g.182585987T>G
GRCh38
NC_000001.10:g.182555122T>G , CM000663.1:g.182555122T>G
GRCh37
NC_000001.9:g.180821745T>G
NCBI36
NG_009024.2:g.5987A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000367559.7:c.820A>C
MANE Select
ENSP00000356530.3:p.Lys274Gln
ENST00000539397.1:c.820A>C
ENSP00000440844.1:p.Lys274Gln
NM_021133.3:c.820A>C
NP_066956.1:p.Lys274Gln
XM_005245411.2:c.820A>C
XP_005245468.1:p.Lys274Gln
XR_001737359.1:n.1103A>C
XR_001737360.1:n.1103A>C
NM_021133.4:c.820A>C
MANE Select
NP_066956.1:p.Lys274Gln
Search 100 bp 5'
Search 100 bp 3'