Canonical Allele Identifier: CA356639991
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800060-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800060T>A , CM000666.2:g.24800060T>A GRCh38
NC_000004.11:g.24801682T>A , CM000666.1:g.24801682T>A GRCh37
NC_000004.10:g.24410780T>A NCBI36
NG_012213.1:g.9598T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.539T>A MANE Select ENSP00000371554.3:p.Val180Asp
ENST00000382120.3:c.539T>A ENSP00000371554.3:p.Val180Asp
NM_003102.2:c.539T>A NP_003093.2:p.Val180Asp
XR_427488.1:n.729T>A
NM_003102.3:c.539T>A NP_003093.2:p.Val180Asp
NM_003102.4:c.539T>A MANE Select NP_003093.2:p.Val180Asp