Canonical Allele Identifier: CA1445033409
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713853471
gnomAD v4: 4-24800311-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800311T>A , CM000666.2:g.24800311T>A GRCh38
NC_000004.11:g.24801933T>A , CM000666.1:g.24801933T>A GRCh37
NC_000004.10:g.24411031T>A NCBI36
NG_012213.1:g.9849T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*67T>A MANE Select ENSP00000371554.3:n.*67T>A
ENST00000382120.3:c.*67T>A ENSP00000371554.3:n.*67T>A
NM_003102.2:c.*67T>A NP_003093.2:n.*67T>A
XR_427488.1:n.980T>A
NM_003102.3:c.*67T>A NP_003093.2:n.*67T>A
NM_003102.4:c.*67T>A MANE Select NP_003093.2:n.*67T>A