Canonical Allele Identifier: CA438901721
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799707-C-A
MyVariant Identifiers: chr4:g.24801329C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799707C>A , CM000666.2:g.24799707C>A GRCh38
NC_000004.11:g.24801329C>A , CM000666.1:g.24801329C>A GRCh37
NC_000004.10:g.24410427C>A NCBI36
NG_012213.1:g.9245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.186C>A MANE Select ENSP00000371554.3:p.Ala62=
ENST00000382120.3:c.186C>A ENSP00000371554.3:p.Ala62=
NM_003102.2:c.186C>A NP_003093.2:p.Ala62=
XR_427488.1:n.376C>A
NM_003102.3:c.186C>A NP_003093.2:p.Ala62=
NM_003102.4:c.186C>A MANE Select NP_003093.2:p.Ala62=
Search 100 bp 5'
Search 100 bp 3'