Canonical Allele Identifier: CA2578057460

Gene: SOD3

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?