Canonical Allele Identifier: CA2876234
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs770770164
gnomAD v2: 4-24801341-G-A
gnomAD v4: 4-24799719-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799719G>A , CM000666.2:g.24799719G>A GRCh38
NC_000004.11:g.24801341G>A , CM000666.1:g.24801341G>A GRCh37
NC_000004.10:g.24410439G>A NCBI36
NG_012213.1:g.9257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.198G>A MANE Select ENSP00000371554.3:p.Gln66=
ENST00000382120.3:c.198G>A ENSP00000371554.3:p.Gln66=
NM_003102.2:c.198G>A NP_003093.2:p.Gln66=
XR_427488.1:n.388G>A
NM_003102.3:c.198G>A NP_003093.2:p.Gln66=
NM_003102.4:c.198G>A MANE Select NP_003093.2:p.Gln66=