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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:
CA356640670
Gene: SOD3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.24801850A>C (hg19)
chr4:g.24800228A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.24800228A>C , CM000666.2:g.24800228A>C
GRCh38
NC_000004.11:g.24801850A>C , CM000666.1:g.24801850A>C
GRCh37
NC_000004.10:g.24410948A>C
NCBI36
NG_012213.1:g.9766A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000382120.4:c.707A>C
MANE Select
ENSP00000371554.3:p.Glu236Ala
ENST00000382120.3:c.707A>C
ENSP00000371554.3:p.Glu236Ala
NM_003102.2:c.707A>C
NP_003093.2:p.Glu236Ala
XR_427488.1:n.897A>C
NM_003102.3:c.707A>C
NP_003093.2:p.Glu236Ala
NM_003102.4:c.707A>C
MANE Select
NP_003093.2:p.Glu236Ala
Search 100 bp 5'
Search 100 bp 3'