Canonical Allele Identifier: CA356639331
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799882-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799882C>A , CM000666.2:g.24799882C>A GRCh38
NC_000004.11:g.24801504C>A , CM000666.1:g.24801504C>A GRCh37
NC_000004.10:g.24410602C>A NCBI36
NG_012213.1:g.9420C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.361C>A MANE Select ENSP00000371554.3:p.Leu121Met
ENST00000382120.3:c.361C>A ENSP00000371554.3:p.Leu121Met
NM_003102.2:c.361C>A NP_003093.2:p.Leu121Met
XR_427488.1:n.551C>A
NM_003102.3:c.361C>A NP_003093.2:p.Leu121Met
NM_003102.4:c.361C>A MANE Select NP_003093.2:p.Leu121Met