Canonical Allele Identifier: CA356639867
Gene: SOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2551714
ClinVar RCV Id: RCV004318299
gnomAD v4: 4-24800030-C-A
MyVariant Identifiers: chr4:g.24801652C>A (hg19) chr4:g.24800030C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800030C>A , CM000666.2:g.24800030C>A GRCh38
NC_000004.11:g.24801652C>A , CM000666.1:g.24801652C>A GRCh37
NC_000004.10:g.24410750C>A NCBI36
NG_012213.1:g.9568C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.509C>A MANE Select ENSP00000371554.3:p.Pro170Gln
ENST00000382120.3:c.509C>A ENSP00000371554.3:p.Pro170Gln
NM_003102.2:c.509C>A NP_003093.2:p.Pro170Gln
XR_427488.1:n.699C>A
NM_003102.3:c.509C>A NP_003093.2:p.Pro170Gln
NM_003102.4:c.509C>A MANE Select NP_003093.2:p.Pro170Gln
Search 100 bp 5'
Search 100 bp 3'