Canonical Allele Identifier: CA356639333
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799883-T-C
MyVariant Identifiers: chr4:g.24801505T>C (hg19) chr4:g.24799883T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799883T>C , CM000666.2:g.24799883T>C GRCh38
NC_000004.11:g.24801505T>C , CM000666.1:g.24801505T>C GRCh37
NC_000004.10:g.24410603T>C NCBI36
NG_012213.1:g.9421T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.362T>C MANE Select ENSP00000371554.3:p.Leu121Pro
ENST00000382120.3:c.362T>C ENSP00000371554.3:p.Leu121Pro
NM_003102.2:c.362T>C NP_003093.2:p.Leu121Pro
XR_427488.1:n.552T>C
NM_003102.3:c.362T>C NP_003093.2:p.Leu121Pro
NM_003102.4:c.362T>C MANE Select NP_003093.2:p.Leu121Pro
Search 100 bp 5'
Search 100 bp 3'