Canonical Allele Identifier: CA356639012
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1560189979
gnomAD v2: 4-24801433-T-G
gnomAD v4: 4-24799811-T-G
MyVariant Identifiers: chr4:g.24801433T>G (hg19) chr4:g.24799811T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799811T>G , CM000666.2:g.24799811T>G GRCh38
NC_000004.11:g.24801433T>G , CM000666.1:g.24801433T>G GRCh37
NC_000004.10:g.24410531T>G NCBI36
NG_012213.1:g.9349T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.290T>G MANE Select ENSP00000371554.3:p.Phe97Cys
ENST00000382120.3:c.290T>G ENSP00000371554.3:p.Phe97Cys
NM_003102.2:c.290T>G NP_003093.2:p.Phe97Cys
XR_427488.1:n.480T>G
NM_003102.3:c.290T>G NP_003093.2:p.Phe97Cys
NM_003102.4:c.290T>G MANE Select NP_003093.2:p.Phe97Cys
Search 100 bp 5'
Search 100 bp 3'