Canonical Allele Identifier: CA2578057460
Gene: SOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800052dup , CM000666.2:g.24800052dup GRCh38
NC_000004.11:g.24801674dup , CM000666.1:g.24801674dup GRCh37
NC_000004.10:g.24410772dup NCBI36
NG_012213.1:g.9590dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.531dup MANE Select ENSP00000371554.3:p.Val178ArgfsTer?
ENST00000382120.3:c.531dup ENSP00000371554.3:p.Val178ArgfsTer?
NM_003102.2:c.531dup NP_003093.2:p.Val178ArgfsTer?
XR_427488.1:n.721dup
NM_003102.3:c.531dup NP_003093.2:p.Val178ArgfsTer?
NM_003102.4:c.531dup MANE Select NP_003093.2:p.Val178ArgfsTer?