Canonical Allele Identifier: CA356638914
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799777C>G , CM000666.2:g.24799777C>G GRCh38
NC_000004.11:g.24801399C>G , CM000666.1:g.24801399C>G GRCh37
NC_000004.10:g.24410497C>G NCBI36
NG_012213.1:g.9315C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.256C>G MANE Select ENSP00000371554.3:p.Gln86Glu
ENST00000382120.3:c.256C>G ENSP00000371554.3:p.Gln86Glu
NM_003102.2:c.256C>G NP_003093.2:p.Gln86Glu
XR_427488.1:n.446C>G
NM_003102.3:c.256C>G NP_003093.2:p.Gln86Glu
NM_003102.4:c.256C>G MANE Select NP_003093.2:p.Gln86Glu