Canonical Allele Identifier: CA2876235
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs776425101
gnomAD v2: 4-24801343-C-G
gnomAD v3: 4-24799721-C-G
gnomAD v4: 4-24799721-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799721C>G , CM000666.2:g.24799721C>G GRCh38
NC_000004.11:g.24801343C>G , CM000666.1:g.24801343C>G GRCh37
NC_000004.10:g.24410441C>G NCBI36
NG_012213.1:g.9259C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.200C>G MANE Select ENSP00000371554.3:p.Pro67Arg
ENST00000382120.3:c.200C>G ENSP00000371554.3:p.Pro67Arg
NM_003102.2:c.200C>G NP_003093.2:p.Pro67Arg
XR_427488.1:n.390C>G
NM_003102.3:c.200C>G NP_003093.2:p.Pro67Arg
NM_003102.4:c.200C>G MANE Select NP_003093.2:p.Pro67Arg