Canonical Allele Identifier: CA356639891
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800035-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800035T>C , CM000666.2:g.24800035T>C GRCh38
NC_000004.11:g.24801657T>C , CM000666.1:g.24801657T>C GRCh37
NC_000004.10:g.24410755T>C NCBI36
NG_012213.1:g.9573T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.514T>C MANE Select ENSP00000371554.3:p.Ser172Pro
ENST00000382120.3:c.514T>C ENSP00000371554.3:p.Ser172Pro
NM_003102.2:c.514T>C NP_003093.2:p.Ser172Pro
XR_427488.1:n.704T>C
NM_003102.3:c.514T>C NP_003093.2:p.Ser172Pro
NM_003102.4:c.514T>C MANE Select NP_003093.2:p.Ser172Pro