Canonical Allele Identifier: CA356638688
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1262041321
gnomAD v2: 4-24801349-C-T
gnomAD v4: 4-24799727-C-T
MyVariant Identifiers: chr4:g.24801349C>T (hg19) chr4:g.24799727C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799727C>T , CM000666.2:g.24799727C>T GRCh38
NC_000004.11:g.24801349C>T , CM000666.1:g.24801349C>T GRCh37
NC_000004.10:g.24410447C>T NCBI36
NG_012213.1:g.9265C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.206C>T MANE Select ENSP00000371554.3:p.Ala69Val
ENST00000382120.3:c.206C>T ENSP00000371554.3:p.Ala69Val
NM_003102.2:c.206C>T NP_003093.2:p.Ala69Val
XR_427488.1:n.396C>T
NM_003102.3:c.206C>T NP_003093.2:p.Ala69Val
NM_003102.4:c.206C>T MANE Select NP_003093.2:p.Ala69Val
Search 100 bp 5'
Search 100 bp 3'