Canonical Allele Identifier: CA356638883
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799768-C-A
MyVariant Identifiers: chr4:g.24801390C>A (hg19) chr4:g.24799768C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799768C>A , CM000666.2:g.24799768C>A GRCh38
NC_000004.11:g.24801390C>A , CM000666.1:g.24801390C>A GRCh37
NC_000004.10:g.24410488C>A NCBI36
NG_012213.1:g.9306C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.247C>A MANE Select ENSP00000371554.3:p.Leu83Ile
ENST00000382120.3:c.247C>A ENSP00000371554.3:p.Leu83Ile
NM_003102.2:c.247C>A NP_003093.2:p.Leu83Ile
XR_427488.1:n.437C>A
NM_003102.3:c.247C>A NP_003093.2:p.Leu83Ile
NM_003102.4:c.247C>A MANE Select NP_003093.2:p.Leu83Ile
Search 100 bp 5'
Search 100 bp 3'