Canonical Allele Identifier: CA356638504
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799696-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799696C>A , CM000666.2:g.24799696C>A GRCh38
NC_000004.11:g.24801318C>A , CM000666.1:g.24801318C>A GRCh37
NC_000004.10:g.24410416C>A NCBI36
NG_012213.1:g.9234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.175C>A MANE Select ENSP00000371554.3:p.Leu59Ile
ENST00000382120.3:c.175C>A ENSP00000371554.3:p.Leu59Ile
NM_003102.2:c.175C>A NP_003093.2:p.Leu59Ile
XR_427488.1:n.365C>A
NM_003102.3:c.175C>A NP_003093.2:p.Leu59Ile
NM_003102.4:c.175C>A MANE Select NP_003093.2:p.Leu59Ile