Canonical Allele Identifier: CA356638797
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799745A>T , CM000666.2:g.24799745A>T GRCh38
NC_000004.11:g.24801367A>T , CM000666.1:g.24801367A>T GRCh37
NC_000004.10:g.24410465A>T NCBI36
NG_012213.1:g.9283A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.224A>T MANE Select ENSP00000371554.3:p.Gln75Leu
ENST00000382120.3:c.224A>T ENSP00000371554.3:p.Gln75Leu
NM_003102.2:c.224A>T NP_003093.2:p.Gln75Leu
XR_427488.1:n.414A>T
NM_003102.3:c.224A>T NP_003093.2:p.Gln75Leu
NM_003102.4:c.224A>T MANE Select NP_003093.2:p.Gln75Leu