Canonical Allele Identifier: CA793265710
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1452517935
gnomAD v4: 4-24800310-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800310C>T , CM000666.2:g.24800310C>T GRCh38
NC_000004.11:g.24801932C>T , CM000666.1:g.24801932C>T GRCh37
NC_000004.10:g.24411030C>T NCBI36
NG_012213.1:g.9848C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*66C>T MANE Select ENSP00000371554.3:n.*66C>T
ENST00000382120.3:c.*66C>T ENSP00000371554.3:n.*66C>T
NM_003102.2:c.*66C>T NP_003093.2:n.*66C>T
XR_427488.1:n.979C>T
NM_003102.3:c.*66C>T NP_003093.2:n.*66C>T
NM_003102.4:c.*66C>T MANE Select NP_003093.2:n.*66C>T