Canonical Allele Identifier: CA356638784
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1367087421
gnomAD v2: 4-24801364-C-T
gnomAD v4: 4-24799742-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799742C>T , CM000666.2:g.24799742C>T GRCh38
NC_000004.11:g.24801364C>T , CM000666.1:g.24801364C>T GRCh37
NC_000004.10:g.24410462C>T NCBI36
NG_012213.1:g.9280C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.221C>T MANE Select ENSP00000371554.3:p.Ala74Val
ENST00000382120.3:c.221C>T ENSP00000371554.3:p.Ala74Val
NM_003102.2:c.221C>T NP_003093.2:p.Ala74Val
XR_427488.1:n.411C>T
NM_003102.3:c.221C>T NP_003093.2:p.Ala74Val
NM_003102.4:c.221C>T MANE Select NP_003093.2:p.Ala74Val