Canonical Allele Identifier: CA356638961

Gene: SOD3

Linked Data

• MyVariant Identifiers: chr4:g.24801421T>A (hg19) ; chr4:g.24799799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799799T>A , CM000666.2:g.24799799T>A	GRCh38
NC_000004.11:g.24801421T>A , CM000666.1:g.24801421T>A	GRCh37
NC_000004.10:g.24410519T>A	NCBI36
NG_012213.1:g.9337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.278T>A MANE Select	ENSP00000371554.3:p.Leu93His
ENST00000382120.3:c.278T>A	ENSP00000371554.3:p.Leu93His
NM_003102.2:c.278T>A	NP_003093.2:p.Leu93His
XR_427488.1:n.468T>A
NM_003102.3:c.278T>A	NP_003093.2:p.Leu93His
NM_003102.4:c.278T>A MANE Select	NP_003093.2:p.Leu93His