Allele Registry

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.

Canonical Allele Identifier: CA550461763

Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1430080247

gnomAD v2: 4-24796692-A-C

gnomAD v3: 4-24795070-A-C

gnomAD v4: 4-24795070-A-C

MyVariant Identifiers: chr4:g.24796692A>C (hg19) chr4:g.24795070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24795070A>C , CM000666.2:g.24795070A>C	GRCh38
NC_000004.11:g.24796692A>C , CM000666.1:g.24796692A>C	GRCh37
NC_000004.10:g.24405790A>C	NCBI36
NG_012213.1:g.4608A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000598411.1:c.-16-4436A>C	ENSP00000472134.1:n.-16-4436A>C

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