Canonical Allele Identifier: CA356638988
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799807-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799807T>G , CM000666.2:g.24799807T>G GRCh38
NC_000004.11:g.24801429T>G , CM000666.1:g.24801429T>G GRCh37
NC_000004.10:g.24410527T>G NCBI36
NG_012213.1:g.9345T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.286T>G MANE Select ENSP00000371554.3:p.Phe96Val
ENST00000382120.3:c.286T>G ENSP00000371554.3:p.Phe96Val
NM_003102.2:c.286T>G NP_003093.2:p.Phe96Val
XR_427488.1:n.476T>G
NM_003102.3:c.286T>G NP_003093.2:p.Phe96Val
NM_003102.4:c.286T>G MANE Select NP_003093.2:p.Phe96Val