Canonical Allele Identifier: CA438901784
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1455713623
gnomAD v2: 4-24801365-G-A
gnomAD v4: 4-24799743-G-A
MyVariant Identifiers: chr4:g.24801365G>A (hg19) chr4:g.24799743G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799743G>A , CM000666.2:g.24799743G>A GRCh38
NC_000004.11:g.24801365G>A , CM000666.1:g.24801365G>A GRCh37
NC_000004.10:g.24410463G>A NCBI36
NG_012213.1:g.9281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.222G>A MANE Select ENSP00000371554.3:p.Ala74=
ENST00000382120.3:c.222G>A ENSP00000371554.3:p.Ala74=
NM_003102.2:c.222G>A NP_003093.2:p.Ala74=
XR_427488.1:n.412G>A
NM_003102.3:c.222G>A NP_003093.2:p.Ala74=
NM_003102.4:c.222G>A MANE Select NP_003093.2:p.Ala74=
Search 100 bp 5'
Search 100 bp 3'