Canonical Allele Identifier: CA356638961
Gene: SOD3 HGNC NCBI

Linked Data

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