Canonical Allele Identifier: CA356640740
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800243-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800243G>C , CM000666.2:g.24800243G>C GRCh38
NC_000004.11:g.24801865G>C , CM000666.1:g.24801865G>C GRCh37
NC_000004.10:g.24410963G>C NCBI36
NG_012213.1:g.9781G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.722G>C MANE Select ENSP00000371554.3:p.Ter241Ser
ENST00000382120.3:c.722G>C ENSP00000371554.3:p.Ter241Ser
NM_003102.2:c.722G>C NP_003093.2:p.Ter241Ser
XR_427488.1:n.912G>C
NM_003102.3:c.722G>C NP_003093.2:p.Ter241Ser
NM_003102.4:c.722G>C MANE Select NP_003093.2:p.Ter241Ser