Canonical Allele Identifier: CA356638400
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1214038276
gnomAD v2: 4-24801300-C-T
gnomAD v4: 4-24799678-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799678C>T , CM000666.2:g.24799678C>T GRCh38
NC_000004.11:g.24801300C>T , CM000666.1:g.24801300C>T GRCh37
NC_000004.10:g.24410398C>T NCBI36
NG_012213.1:g.9216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.157C>T MANE Select ENSP00000371554.3:p.Arg53Trp
ENST00000382120.3:c.157C>T ENSP00000371554.3:p.Arg53Trp
ENST00000598411.1:c.157C>T ENSP00000472134.1:p.Arg53Trp
NM_003102.2:c.157C>T NP_003093.2:p.Arg53Trp
XR_427488.1:n.347C>T
NM_003102.3:c.157C>T NP_003093.2:p.Arg53Trp
NM_003102.4:c.157C>T MANE Select NP_003093.2:p.Arg53Trp